|
Amyotrophic Lateral Sclerosis (ALS)
|
ALS panel:
genpanel_versie 1
Gene panel-ALS-version 3
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Hannah Verdin
|
| Accréditation |
Non |
| Remarques |
Can only by requested if a repeat expansion of C9orf72 was excluded. Please add the genetic report of this analysis to the request form.
Recent clinical report required! |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
Achondrogenesis type 2
|
COL2A1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Achondroplasie
|
FGFR3 |
6 semaines |
| Les synonymes, les conditions liées: |
dwerggroei |
| Méthodologie |
DNA-sequenering (G380R) |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Achromatopsie
|
CNGB3, CNGA3 |
3-4 maanden |
| Méthodologie |
Sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
|
|
|
Acrocapitofemoral dysplasia
|
IHH |
8 weken |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Angelman syndroom
|
15q11-15q13 |
6 semaines |
| Les synonymes, les conditions liées: |
AS. Happy Puppet syndrome, methylatie chromosoom 15 |
| Méthodologie |
MS-MLPA |
| Responsable(s) |
Kathleen Claes
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Aniridia
|
PAX6 |
3 mois |
| Méthodologie |
DNA-sequenering en MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Anterieure segment dysgenese
|
FOXC1, PITX2, PITX3, FOXE3 |
3 mois |
| Les synonymes, les conditions liées: |
Axenfeld-Rieger malformatie; Rieger syndroom |
| Méthodologie |
DNA-sequenering en MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Arrhytmogenic cardiopathy
|
PKP2, DSG2, JUP, TMEM43, DSC2, DSP, PLN, DES |
8 weken |
| Méthodologie |
DNA sequenering |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Arterial Tortuosity Syndrome (ATS) gene package
|
SLC2A10, FBLN4 (=EFEMP2) |
8 weeks |
| Les synonymes, les conditions liées: |
ATS |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Arthrogryposis Distal Type 9
|
FBN2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Clinical checklist recommended
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Ataxia spasticity
|
Ataxia-spasticity gene panel:
genpanel_versie 1
genpanel_versie 2 |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Hannah Verdin
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Ataxia telangiectasia
|
ATM |
4 mois |
| Méthodologie |
DNA sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
Bij voorkeur eerst alfa-foetoproteïne bepalen |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
BAP1 tumor predisposition syndrome
|
BAP1 |
4 months |
| Méthodologie |
DNA sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Beals-Hecht syndrome / Congenital contractural arachnodactyly (CCA)
|
FBN2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Best maculaire dystrofie (vitelliforme)
|
BEST1 |
3 mois |
| Méthodologie |
DNA-sequenering en MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Bethlem myopathy gene package
|
COL6A1, COL6A2, COL6A3, COL12A1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Bicuspid aortic valve (BAV) disease gene package
|
SMAD6, NOTCH1, NKX2.5, GATA5, ROBO4 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Birt-Hogg-Dubé syndroom
|
FLCN |
4 mois |
| Les synonymes, les conditions liées: |
BHD |
| Méthodologie |
DNA-sequencing and MLPA (MRC Holland - P256) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Blepharophimosis (BPES) type I /II
|
FOXL2 |
3 mois |
| Les synonymes, les conditions liées: |
BPES 1 / 2 |
| Méthodologie |
DNA-sequenering coderende sequentie en MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Bloom syndrome
|
BLM |
4 months |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Brachydactyly type A1
|
IHH |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Brugada syndrome
|
SCN5A |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Buschke-Ollendorff syndrome (BOS)
|
LEMD3 |
8 weeks |
| Les synonymes, les conditions liées: |
BOS |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
CADASIL
|
NOTCH3 |
3-6 mois |
| Les synonymes, les conditions liées: |
Cerebral arteriopathy wih subcortical infarcts and leukencephalopathy |
| Méthodologie |
DNA-sequenering van alle exonen met EGFL-domeinen (exonen 2-24) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Carrier screening (BeGECS)
|
Gene panels: Genpanel BeGECS_version 2
|
4 months |
| Les synonymes, les conditions liées: |
Expanded carrier screening |
| Méthodologie |
DNA sequencing, MLPA, PCR, TP-PCR and fragment analysis |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Remarques |
Only after consultation in a center for Medical Genetics.
No RIZIV reimbursement for this test.
information brochure: https://www.cmgg.be/assets/downloads/Brochure_BeGECS_Genetische-dragerschapsscreening_AUG2019.pdf |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Cataract
|
Genpanel Cataract:
Genpanel_versie 2
Genpanel_versie 3
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Catecholaminergic Polymorphic Ventricular Tachycardia
|
CASQ2, RYR2, TRDN, TECRL, CALM1, CALM2, CALM3 |
3-4 months |
| Les synonymes, les conditions liées: |
CPVT |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Cerebral small vessel disease gene package
|
COL4A1, COL4A2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Charcot-Marie-Tooth type 1A. ziekte van
|
PMP22 |
8 semaines |
| Les synonymes, les conditions liées: |
CMT type 1A/PMP22-duplicatie |
| Méthodologie |
MLPA |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Choroïderemie
|
CHM |
3 mois |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Ciliopathie
|
Ciliopathy gene panel: genpanel_versie 2 genpanel_versie 3 genpanel_versie 4 genpanel_versie 5
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Lore Pottie
|
| Accréditation |
Oui |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Cleft lip/palate syndrome type 3 gene package
|
TP63, AXIN2, WNT10A, PAX9, MSX1, EDA, EDAR, EDARADD |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Colon cancer - Lynch syndrome - methylation promotor MLH1-gene
|
MLH1 |
3 months |
| Méthodologie |
MS-MLPA |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
Paraffine block of tumor
| Abréviation: |
P |
| Type d'acier: |
FFPE-weefsel in de vorm van paraffineblok of coupes op draagglaasjes |
| Quantité: |
één paraffineblok of min. 5 draagglaasjes met opeenvolgende coupes (één H&E gekleurd en 4 ongekleurd) |
| Stockage: |
kamertemperatuur |
| Livraison au laboratoire: |
geen speciale voorzorgen nodig, kan per reguliere post, afleveren vóór 17 uur |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Congenitaal Centraal Hypoventilatie Syndroom
|
PHOX2B |
3 mois |
| Méthodologie |
sequenering drie coderende exonen |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
kortere uitslagtermijn bij neonaat, na overleg |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Congenital structural heart defects gene package
|
CHD panel:
Gene panel_version 1
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
EDTA blood sample from both parents required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Corneal dystrophy
|
Corneal dystrophy panel:
gene panel_version 1
gene panel_version 2
genepanel_version 3
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required! |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Craniosynostosis
|
Craniosynostose panel:
genepanel_versie 1 |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Craniosynostosis Boston Type
|
MSX2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Craniosynostosis/Apert Syndrome (hotspot analysis - p.Ser252; p.Pro253)
|
FGFR2 |
6 weeks |
| Méthodologie |
Hotspot analysis - p.Ser252; p.Pro253 |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Cutis Laxa gene package
|
Genpanel Cutis Laxa _version 1
|
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
cystic Fibrosis, first line testing
|
CFTR |
4 semaines |
| Les synonymes, les conditions liées: |
cystische fibrose |
| Méthodologie |
DNA-sequencing (50 most frequent mutations in the Belgian population) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
Cheek brush
| Abréviation: |
B |
| Type d'acier: |
Wangborsteltje, wangbrush of swab |
| Quantité: |
steeds twee stalen afnemen |
| Stockage: |
op kamertemperatuur of in koelkast, NIET in plastiek zak! |
| Livraison au laboratoire: |
binnen de 72 uur na de afname, afleveren vóór 17 uur (op vrijdag vóór 14 uur) |
| Remarques: |
Voor een beperkt aantal genetische testen worden wangborsteltjes aanvaard.
Een door een arts ingevuld en gehandtekend aanvraagformulier is absoluut noodzakelijk, ook als de patiënt in afwezigheid van een arts het staal thuis afneemt. |
|
|
|
Deficiency of Vitamin K-Dependent Clotting Factors
|
VKORC1, GGCX |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Dicer1 syndroom
|
DICER1 |
4 maanden |
| Méthodologie |
DNA Sequenering and MLPA (MRC Holland - P482) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Dihydropyrimidine dehydrogenase deficiency
|
DPYD |
2-3 weken |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
|
|
|
Dilated cardiomyopathy
|
RBM20, TNNC1, DES, TNNT2, FLNC, BAG3, LMNA, MYH7, SCN5A, TTN, DSP, NEXN, ACTC1, TPM1, JPH2, TNNI3, VCL |
3-4 months |
| Les synonymes, les conditions liées: |
DCMP |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Disorder of sex development-Primary Ovarian Insufficiency-Hypogonadotropic Hypogonadism (DSD-POI-HH) (gene panel)
|
DSD gene panel:
genpanel_versie 4
genpanel_versie 5
|
6 months |
| Les synonymes, les conditions liées: |
DSD |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Distale Spinale Musculaire atrofie (X-linked distal SMA)
|
ATP7A |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Ectodermal dysplasia gene package
|
Gene panel: Ectodermal dysplasia _version 5 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Ectopia lentis gene package
|
LTBP2, ADAMTSL4, FBN1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Ectrodactyly gene package
|
TP63, AXIN2, WNT10A, PAX9, MSX1, EDA, EDAR, EDARADD |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Ehlers-Danlos syndrome, EDS
|
Panel EDS: genpanel_versie 5
genpanel_versie 1
|
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Ehlers-Danlos syndrome, vascular type (EDS type IV)
|
COL3A1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Enhanced S-cone syndrome
|
NR2E3 |
3 mois |
| Les synonymes, les conditions liées: |
ESCS |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Erfelijk melanoom / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM
|
CDKN2A, POT1, MITF, CDK4, BAP1, MBD4, ACD, TERF2IP, TERT |
4 mois |
| Les synonymes, les conditions liées: |
MLM; melanoma, cutaneous malignant |
| Méthodologie |
DNA-sequenering en digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Erfelijke colonkanker - Lynch syndrome - onderzoek naar microsatelliet-instabiliteit (MSI)
|
- |
3 mois |
| Les synonymes, les conditions liées: |
microsatellite instability |
| Méthodologie |
fragment-analyse |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
Paraffine block of tumor
| Abréviation: |
P |
| Type d'acier: |
FFPE-weefsel in de vorm van paraffineblok of coupes op draagglaasjes |
| Quantité: |
één paraffineblok of min. 5 draagglaasjes met opeenvolgende coupes (één H&E gekleurd en 4 ongekleurd) |
| Stockage: |
kamertemperatuur |
| Livraison au laboratoire: |
geen speciale voorzorgen nodig, kan per reguliere post, afleveren vóór 17 uur |
|
|
|
Fabry. ziekte van
|
GLA |
3-4 mois |
| Les synonymes, les conditions liées: |
alpha galactosidase A deficiëntie |
| Méthodologie |
DNA-sequenering en MLPA |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Remarques |
Het verstrekken van de klinische informatie is een vereiste.
Genetisch onderzoek bij mannen is enkel zinvol in geval alfa-galactosidase activiteit verlaagd is. Graag de resultaten van dit onderzoek bezorgen samen met de aanvraag. Gecombineerd aanvraagformulier voor bepalen van alfa-galactosidase activiteit en genetisch onderzoek is beschikbaar via: https://labgids.uzgent.be/
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Familial Thoracic Aortic Aneurysm (FTAA)
|
ACTA2, BGN, COL3A1, FBN1, FOXE3, HCN4, LOX, LTBP3, MAT2A, MFAP5, MYH11, MYLK, PRKG1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, IPO8, EFEMP2
|
8 weeks |
| Les synonymes, les conditions liées: |
FTAA2 |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Familiale exsudatieve vitreoretinopathie / FEVR
|
FZD4, TSPAN12, LRP5, NDP |
3-4 maand |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
|
|
|
Fanconi anemia
|
FANCA, FANCB, FANCC, FANCD1 (BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (BRIP1), FANCL, FANCM, FANCN (PALB2), FANCO (RAD51C), FANCP (SLX4), FANCQ (ERCC4), FANCS (BRCA1), FANCT (UBE2T), FANCR (RAD51), FANCU (XRCC2), FANCV (MAD2L2), FANCW (RFWD3) |
4-6 months |
| Méthodologie |
DNA-sequencing, MLPA (MRC Holland: P031, P032, P113 en P057) and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Farmacogenetisch onderzoek: Butyryl cholinesterase deficiëntie
|
BCHE |
3 mois |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Feingold syndrome
|
MYCN |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Fertiliteitsprobleem man - azoöspermia door CAVD
|
CFTR |
4 semaines |
| Les synonymes, les conditions liées: |
C(B)AVD congenitale (bilaterale) afwezigheid van de vas deferens |
| Méthodologie |
INNO-LiPA CFTR 19 en INNO-LiPA CFTR 17+Tn |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Fertiliteitsprobleem man - verstoorde spermatogenese
|
Yg11 |
6 semaines |
| Les synonymes, les conditions liées: |
DAZ deletie, opsporen deleties AZFa, AZFb, AZFc |
| Méthodologie |
multiplex PCR voor STS op Yg11 |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Fertiliteitsprobleem vrouw - prematuur ovarieel falen
|
FMR1 |
6 semaines |
| Les synonymes, les conditions liées: |
POF Prematuur ovariaal falen, FMR1 - gerelateerd |
| Méthodologie |
PCR en TP-PCR en fragment-analyse, eventueel Southern blot hybridisatie |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Fertiliteitsprobleem: subfertiliteit, infertiliteit, herhaald miskraam
|
vermoeden van chromosoomafwijking |
6 semaines |
| Méthodologie |
conventionele karyotypering |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Fetal testing - molecular karyotyping
|
- |
8 days |
| Les synonymes, les conditions liées: |
Prenatal testing |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
Chorionvilli
| Abréviation: |
CVS |
| Type d'acier: |
chorionvlokken
|
| Quantité: |
10 – 20 mg of meer natgewogen chorionvlokken (benodigde hoeveelheid is testgebonden) |
| Stockage: |
bewaar het staal in een steriel recipiënt met kweekmedium of steriele fysiologische oplossing, op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
| Livraison au laboratoire: |
bezorg de chorionvlokken zo snel mogelijk – binnen de 24 uur na afname - aan het CMGG, dit vóór 17 uur (op vrijdag vóór 14 uur) - verwittig bij eventuele transportproblemen tijdig het laboratorium via het secretariaat CMGG 09/332 2477 zodat het staal vooralsnog in ontvangst genomen kan worden |
| Remarques: |
Verwittig het secretariaat van het laboratorium via 09/332 2477 |
Amniotic fluid
| Abréviation: |
V |
| Type d'acier: |
vruchtwater
|
| Quantité: |
minimum 10 ml vruchtwater opgevangen in een steriel recipiënt |
| Stockage: |
bewaar het staal op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
| Livraison au laboratoire: |
bezorg het vruchtwater zo snel mogelijk – binnen de 24 uur na afname - aan het CMGG, dit vóór 17 uur (op vrijdag vóór 14 uur) - verwittig bij eventuele transportproblemen tijdig het laboratorium via het secretariaat 09/332 2477 zodat het staal vooralsnog in ontvangst genomen kan worden |
| Remarques: |
verwittig het laboratorium via het secretariaat 09/332 2477 |
|
|
|
Foetaal onderzoek - DNA-onderzoek
|
- |
10 werkdagen |
| Les synonymes, les conditions liées: |
Prenataal onderzoek |
| Méthodologie |
meestal DNA-sequenering; methodologie naargelang aandoening |
| Responsable(s) |
Elfride De Baere
Kathleen Claes
Paul Coucke
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
familiale mutatie moet voor de zwangerschap gekarakteriseerd zijn |
| Matériel |
Amniotic fluid
| Abréviation: |
V |
| Type d'acier: |
vruchtwater
|
| Quantité: |
minimum 10 ml vruchtwater opgevangen in een steriel recipiënt |
| Stockage: |
bewaar het staal op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
| Livraison au laboratoire: |
bezorg het vruchtwater zo snel mogelijk – binnen de 24 uur na afname - aan het CMGG, dit vóór 17 uur (op vrijdag vóór 14 uur) - verwittig bij eventuele transportproblemen tijdig het laboratorium via het secretariaat 09/332 2477 zodat het staal vooralsnog in ontvangst genomen kan worden |
| Remarques: |
verwittig het laboratorium via het secretariaat 09/332 2477 |
Chorionvilli
| Abréviation: |
CVS |
| Type d'acier: |
chorionvlokken
|
| Quantité: |
10 – 20 mg of meer natgewogen chorionvlokken (benodigde hoeveelheid is testgebonden) |
| Stockage: |
bewaar het staal in een steriel recipiënt met kweekmedium of steriele fysiologische oplossing, op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
| Livraison au laboratoire: |
bezorg de chorionvlokken zo snel mogelijk – binnen de 24 uur na afname - aan het CMGG, dit vóór 17 uur (op vrijdag vóór 14 uur) - verwittig bij eventuele transportproblemen tijdig het laboratorium via het secretariaat CMGG 09/332 2477 zodat het staal vooralsnog in ontvangst genomen kan worden |
| Remarques: |
Verwittig het secretariaat van het laboratorium via 09/332 2477 |
|
|
|
Foetaal onderzoek - miskraam
|
- |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Non |
| Matériel |
Miscarriage tissue
|
|
|
Fragiele X geassocieerd Tremor-Ataxie syndroom
|
FMR1 |
6 semaines |
| Les synonymes, les conditions liées: |
FXTAS |
| Méthodologie |
PCR en TP-PCR en fragment-analyse, eventueel Southern blot hybridisatie |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Fragiele X syndroom
|
FMR1 |
6 semaines |
| Les synonymes, les conditions liées: |
Fra X. Martin-Bell syndroom |
| Méthodologie |
PCR en TP-PCR en fragment-analyse, eventueel Southern blot hybridisatie |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
FRMD7 gerelateerde infantiele nystagmus
|
FRMD7 |
3-4 maanden |
| Les synonymes, les conditions liées: |
nystagmus |
| Méthodologie |
DNA-sequenering en MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
|
|
|
Gameetdonor (eiceldonor, spermadonor)
|
chromosomenonderzoek |
6 semaines |
| Méthodologie |
conventionele karyotypering |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Gameetdonor (eiceldonor, spermadonor)
|
CFTR |
4 semaines |
| Les synonymes, les conditions liées: |
dragerschap mucoviscidose |
| Méthodologie |
DNA-sequenering van de 50 meest frequente mutaties in de Belgische populatie |
| Responsable(s) |
Kathleen Claes
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Gameetdonor (eiceldonor, spermadonor)
|
SMN1 |
6 semaines |
| Les synonymes, les conditions liées: |
dragerschap Spinale Musculaire Atrofie (SMA) |
| Méthodologie |
MLPA |
| Responsable(s) |
Kathleen Claes
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Gastric cancer, diffuse
|
CDH1, CTNNA1 |
4 months |
| Méthodologie |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Generalized Arterial Calcification of Infancy (GACI)
|
ENPP1, ABCC6 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Geroderma osteodysplasticum gene package
|
ELN, FBLN4 (=EFEMP2), FBLN5, LTBP4, ATP6V0A2, PYCR1, ALDH18A1, ATP7A, COG7, TALDO1, SCYL1BP1 (=GORAB), NAA10, RIN2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Glaucoma
|
Panel glaucoma: genpanel_versie 1 genpanel_versie 2 |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
|
|
|
Heart gene package / Cardio gene package
|
Cardiopathie panel: genpanel_versie 5 genpanel_versie 6
genpanel_versie 7
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hemorrhagic stroke gene package
|
COL4A1, COL4A2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hepatology
|
Hepatology gene panel:
gene panel_version 4
gene panel_version 5
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Lore Pottie
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required! |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hereditaire drukneuropathie
|
PMP22 |
8 semaines |
| Les synonymes, les conditions liées: |
HNPP PMP22-deletie |
| Méthodologie |
MLPA |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hereditaire hemochromatose type I
|
HFE |
4 semaines |
| Méthodologie |
DNA-sequencing for detection of Cys282Tyr and His63Asp |
| Responsable(s) |
Kathleen Claes
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
Clinical information necessary: Ferritin and Transferrin saturation
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome (HANAC) gene package
|
COL4A1, COL4A2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hereditary breast- and ovary cancer
|
BRCA1 / BRCA2 / PALB2 / TP53 / CHEK2 / ATM / RAD51C / RAD51D / BRIP1/ MLH1 / MSH2 / MSH6 / BARD1 |
4 months, 8 weeks (therapy) |
| Méthodologie |
DNA-sequencing / digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Remarques |
Urgent genetic testing for therapy, PARP inhibitors is possible.
The procedure and a specific request form (only available in Dutch) can be found under: https://www.cmgg.be/nl/zorgverlener/formulieren/aanvraagformulieren
---> Aanvraagformulier genetisch onderzoek i.k.v. PARP inhibitoren en/of erfelijke prostaat-, pancreas-, borst- en/of ovariumkanker (pdf) |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hereditary colon cancer
|
SMAD4, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, MSH3, POLE, POLD1, BMPR1A, APC, STK11, PTEN, GREM1, EPCAM, RNF43, AXIN2
|
4 months |
| Méthodologie |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Heterotaxy PCD (Primary ciliary dyskinesia) gene panel
|
Heterotaxie PCD panel: genpanel_versie 1 genpanel_versie 2 genpanel_versie 3
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Lore Pottie
|
| Accréditation |
Oui |
| Remarques |
Recent clinical report required!
Only after consultation in a center for Medical Genetics |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hirschsprung
|
RET, EDNRB, EDN3, SOX10, GDNF, NRG1, NRG3, NRTN, SEMA3C, SEMA3D |
4 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Huntington. ziekte van
|
HD |
6 weeks (diagnostic cases), 3 weeks (presymptomatic cases) |
| Les synonymes, les conditions liées: |
Huntington chorea |
| Méthodologie |
PCR en fragment-analyse voor bepalen lengte CAG repeat in HD-gen |
| Responsable(s) |
Kathleen Claes
Elfride De Baere
|
| Accréditation |
Oui |
| Remarques |
klinisch neurologisch verslag vereist; presymptomatische test enkel na genetische raadpleging |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hypertrophic Cardiomyopathy
|
ACTC1, CSPR3, JPH2, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2, TPM1, PRKAG2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Only after consultation in a center for Medical Genetics |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hypochondrogenesis
|
COL2A1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Hypochondroplasia (hotspot analysis - p.Asn540; p.Ile538; p.Lys650)
|
FGFR3 |
6 weeks |
| Méthodologie |
Hotspot analysis - p.Asn540; p.Ile538; p.Lys650 |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
ID (intellectual disability) and epilepsy
|
genpanel_versie 1
genpanel_versie 2 genpanel_versie 3
genpanel_versie 4
genpanel_versie 5
genpanel_versie 6 genpanel_versie 7
|
6 months |
| Les synonymes, les conditions liées: |
Intellectual disability, ID, mental retardation, epilepsy, gene panel, panel, exome sequencing, exome |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Remarques |
EDTA blood sample of both parents required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Identiteitsbepaling
|
- |
2 mois |
| Les synonymes, les conditions liées: |
Paterniteitsbepaling |
| Méthodologie |
PCR/ Fragmentanalyse |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
Cheek brush
| Abréviation: |
B |
| Type d'acier: |
Wangborsteltje, wangbrush of swab |
| Quantité: |
steeds twee stalen afnemen |
| Stockage: |
op kamertemperatuur of in koelkast, NIET in plastiek zak! |
| Livraison au laboratoire: |
binnen de 72 uur na de afname, afleveren vóór 17 uur (op vrijdag vóór 14 uur) |
| Remarques: |
Voor een beperkt aantal genetische testen worden wangborsteltjes aanvaard.
Een door een arts ingevuld en gehandtekend aanvraagformulier is absoluut noodzakelijk, ook als de patiënt in afwezigheid van een arts het staal thuis afneemt. |
|
|
|
Idiopathic cerebral white matter lesions gene package
|
COL4A1, COL4A2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Isolated retinal arteriolar tortuosity gene package
|
COL4A1, COL4A2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
karyotype (bloed)
|
- |
6 semaines |
| Méthodologie |
karyotypering |
| Responsable(s) |
Björn Menten
Annelies Dheedene
|
| Accréditation |
Oui |
| Matériel |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
karyotype (CVS)
|
- |
1 semaine |
| Méthodologie |
karyotypering |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Non |
| Matériel |
Chorionvilli
| Abréviation: |
CVS |
| Type d'acier: |
chorionvlokken
|
| Quantité: |
10 – 20 mg of meer natgewogen chorionvlokken (benodigde hoeveelheid is testgebonden) |
| Stockage: |
bewaar het staal in een steriel recipiënt met kweekmedium of steriele fysiologische oplossing, op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
| Livraison au laboratoire: |
bezorg de chorionvlokken zo snel mogelijk – binnen de 24 uur na afname - aan het CMGG, dit vóór 17 uur (op vrijdag vóór 14 uur) - verwittig bij eventuele transportproblemen tijdig het laboratorium via het secretariaat CMGG 09/332 2477 zodat het staal vooralsnog in ontvangst genomen kan worden |
| Remarques: |
Verwittig het secretariaat van het laboratorium via 09/332 2477 |
|
|
|
karyotype (vruchtwater)
|
- |
3 semaines |
| Méthodologie |
karyotypering |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
Amniotic fluid
| Abréviation: |
V |
| Type d'acier: |
vruchtwater
|
| Quantité: |
minimum 10 ml vruchtwater opgevangen in een steriel recipiënt |
| Stockage: |
bewaar het staal op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
| Livraison au laboratoire: |
bezorg het vruchtwater zo snel mogelijk – binnen de 24 uur na afname - aan het CMGG, dit vóór 17 uur (op vrijdag vóór 14 uur) - verwittig bij eventuele transportproblemen tijdig het laboratorium via het secretariaat 09/332 2477 zodat het staal vooralsnog in ontvangst genomen kan worden |
| Remarques: |
verwittig het laboratorium via het secretariaat 09/332 2477 |
|
|
|
Klinefelter syndroom
|
XXY |
6 semaines |
| Les synonymes, les conditions liées: |
47.XXY |
| Méthodologie |
Karyotyperen en FISH |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Kniest dysplasia
|
COL2A1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Lamin A/C
|
LMNA |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Langer-Giedion syndroom
|
8q24 |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Leber congenitale amaurosis - Retinal dystrophy, early-onset
|
CEP290. GUCY2D. AIPL1. CRX. CRB1. RPE65 |
3 - 6 mois |
| Les synonymes, les conditions liées: |
LCA, EORD |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Leri-Weill dyschondrosteosis
|
SHOX |
8 semaines |
| Méthodologie |
DNA sequencing and MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Leukodystrophy
|
Leukodystrophy panel: gene panel_version 1 gene panel_version 2 |
6 months |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Hannah Verdin
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Li Fraumeni syndrome
|
TP53 |
4 months |
| Méthodologie |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Long QT syndrome
|
SCN5A, KCNH2, KCNQ1, CALM2, CALM1, CALM3, TRDN, CACNA1C |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Maculaire dystrofie
|
PRPH2 (RDS) |
3 mois |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Malignant hyperthermia
|
RYR1, CACNA1S |
8 weeks |
| Méthodologie |
DNA sequenering |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Marfan syndrome
|
FBN1 |
8 weeks |
| Les synonymes, les conditions liées: |
MFS |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Megalocornea
|
LTBP2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Melorheostosis
|
LEMD3 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Mental retardation: molecular karyotyping
|
- |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Microphthalmia/Anophthalmia/Coloboma – Anterieure Segment Dysgenese (MAC-ASD)
|
MAC-ASD panel: gene panel_version 2 gene panel_version 3 |
6 months |
| Les synonymes, les conditions liées: |
MAC-ASD |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Microspherophakia
|
LTBP2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Miller-Dieker syndroom
|
17p13.3 |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Movement disorder
|
Movement disorders gene panel: gene panel_versie 1 gene panel_versie 2 |
6 months |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Hannah Verdin
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Mucoviscidose: volledige coderende sequentie CFTR gen
|
CFTR |
3 - 4 mois |
| Les synonymes, les conditions liées: |
cystische fibrose |
| Méthodologie |
DNA-sequenering van de volledige coderende sequentie van het CFTR-gen |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
wordt pas uitgevoerd indien geen mutatie met de InnoLipa19&17 testen werd geïdentificeerd |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Muenke syndrome (hotspot analysis - p.Pro250)
|
FGFR3 |
6 weeks |
| Méthodologie |
Hotspot analysis - p.Pro250 |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Multipele congenitale anomalieën (MCA)
|
mendeliome panel:
gene panel_version 1 gene panel_version 2 gene panel_version 3
gene panel_version 4
gene panel_version 5 gene panel_version 6
|
6 maanden |
| Les synonymes, les conditions liées: |
mendeliome, multiple congenital anomalies, malformations |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Machteld Baetens
Sarah Delbaere
Björn Menten
|
| Accréditation |
Non |
| Remarques |
1) Bij een analyse in het kader van een lopende zwangerschap kan de test enkel uitgevoerd worden na overleg met een klinisch geneticus.
2) Het verstrekken van voldoende, relevante klinische informatie is verplicht.
3) Er is steeds een EDTA-bloedstaal van beide ouders vereist alvorens de analyse opgestart kan worden. |
| Matériel |
|
|
|
Multipele endocriene neoplasie, MEN type 2A, MEN type 2B
|
RET |
4 mois |
| Les synonymes, les conditions liées: |
Multiple endocriene neoplasie type 2A. type 2B; medullair schildkliercarcinoom. familiale Hirschsprung |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Multiple endocrine neoplasia (MEN) type 1 and 4
|
MEN1, AIP, CDKN1B |
4 months |
| Les synonymes, les conditions liées: |
MEN1 |
| Méthodologie |
DNA-sequencing en MLPA (MRC Holland: P017) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Multiple epiphyseal dysplasia, dominant and recessive type (MED)
|
COL2A1, SLC26A2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Myosclerosis Myopathy gene package
|
COL6A1, COL6A2, COL6A3, COL12A1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Myotone dystrofie type I
|
DMPK |
6 semaines |
| Les synonymes, les conditions liées: |
ziekte van Steinert |
| Méthodologie |
PCR-fragmentanalyse CTG repeat en TP-PCR, eventueel Southern blot hybridisatie |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Nanophthalmos
|
MFRP, PRSS56 |
3-4 months |
| Méthodologie |
DNA-sequencing and MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Nefropathy
|
Nephrogenetics panel: gene panel_version 1 gene panel_version 2 |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Neurodegeneration with Brain Iron Accumulation (NBIA)
|
Gene panel: NBIA |
6 months |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Hannah Verdin
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Neurofibromatose type 2
|
NF2 |
4 mois |
| Méthodologie |
DNA-sequenering en MLPA |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Neurofibromatosis type 1
|
NF1, SPRED1 |
3 - 4 months |
| Les synonymes, les conditions liées: |
Ziekte van von Recklinghausen |
| Méthodologie |
DNA-sequencing cDNA and MLPA |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist required (see https://www.cmgg.be/en/professionals/forms/test-specific-questionnaires) |
| Matériel |
Fresh EDTA blood sample required
| Abréviation: |
E! |
| Type d'acier: |
Vers ongestold bloed, met EDTA als anti-coagulens |
| Quantité: |
>= 5 ml (voor neonaten is 1 ml aanvaardbaar) |
| Stockage: |
na afname op kamertemperatuur (niet in koelkast en niet invriezen) |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, afleveren vóór 17 uur (op vrijdag vóór 14 uur) |
| Remarques: |
vers bloed is nodig voor RNA-gebaseerde testen; voor DNA-gebaseerde testen zijn de voorwaarden voor het bloed minder strikt (zie hoger voorwaarden voor "Bloed")
indien het bloed meer dan 48 uur na afname in het CMGG arriveert is het niet meer geschikt voor RNA-isolatie en kan de analyse niet uitgevoerd worden. |
Skin biopt
| Abréviation: |
F |
| Type d'acier: |
steriel afgenomen huidbiopt |
| Quantité: |
één huidbiopt |
| Stockage: |
breng onmiddellijk in een steriele recipiënt met steriel kweekmedium of (indien dit niet voorhanden is) steriele fysiologische oplossing (geen formol !) en bewaar het weefsel in de koelkast (2-8°C)
|
| Livraison au laboratoire: |
binnen de 72 uur na afname - in het labo, dit vóór 17 uur (transport mag bij kamertemperatuur) |
| Remarques: |
Verwittig het laboratorium via het secretariaat 09/332 2477 |
|
|
|
Neuromuscular Disease
|
Neuromuscular disease panel: gene panel_version 4 gene panel_version 5 genpanel_version 6
|
6 months |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Recent clinical report required!
Only after consultation in a center for Medical Genetics
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Neuropathy
|
Neuropathy panel: genpanel_versie 1 genpanel_versie 2 |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required! |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Nijmegen Breakage syndrome
|
NBN |
4 months |
| Méthodologie |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Occipital horn syndrome
|
ATP7A |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Occulte maculadystrofie
|
RP1L1 |
3-4 maand |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
|
|
|
Ocular albinism type 1 and Oculocutaneous albinism type 1,2,3,4,6,7,8 : first line analysis
|
GPR143, TYR, OCA2, TYRP1, SLC45A2, SLC24A2, LRMDA, DCT |
3-4 months |
| Les synonymes, les conditions liées: |
OA1, OCA1. OCA2, OCA3, OCA4, OCA6, OCA7, OCA8 |
| Méthodologie |
DNA-sequencing and MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Oculocutaneous albinism / Ocular albinism / Isolated nystagmus: second line analysis
|
OCA-OA-Isolated nystagmus: genpanel_versie 1 genpanel_versie 2 |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
Only after first line testing Ocular albinism (GPR143) and/or Oculocutaneous albinism (TYR, OCA2, TYRP1, SLC45A2, SLC24A2, LRMDA, DCT)
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Optic atrophy
|
optic atrophy panel: genpanel_versie 1 genpanel_versie 2 |
6 months |
| Méthodologie |
DNA sequencing and MLPA (OPA1) |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Osteogenesis imperfecta / Osteoporosis
|
ACAN, ALPL, B3GALT6, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, TENT5A, FKBP10, IFITM5, P3H1, LRP5, LRP6, MBTPS2, NBAS, P4HB, PLOD2, PLS3, PPIB, SEC24D, SERPINF1, SERPINH1, SP7, SPARC, TAPT1, WNT1, XYLT2, TMEM38B, LIFR, MESD, KDELR2, CCDC134, SGMS2, STX18, SUCO, WNT3A, PHEX, COPB2, ARF5, BICDL1, MIA3, SEC16B
|
8 weeks (connective tissue array: 3-4 months / biochemical analysis: 6 months) |
| Les synonymes, les conditions liées: |
OI |
| Méthodologie |
DNA sequencing + biochemical analysis (new request form required) |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
Skin biopt
| Abréviation: |
F |
| Type d'acier: |
steriel afgenomen huidbiopt |
| Quantité: |
één huidbiopt |
| Stockage: |
breng onmiddellijk in een steriele recipiënt met steriel kweekmedium of (indien dit niet voorhanden is) steriele fysiologische oplossing (geen formol !) en bewaar het weefsel in de koelkast (2-8°C)
|
| Livraison au laboratoire: |
binnen de 72 uur na afname - in het labo, dit vóór 17 uur (transport mag bij kamertemperatuur) |
| Remarques: |
Verwittig het laboratorium via het secretariaat 09/332 2477 |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Osteopoikilosis
|
LEMD3 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Pancreatic cancer, hereditary
|
BRCA1, BRCA2, ATM, PALB2, STK11, CDKN2A, RABL3, MLH1, MSH2, MSH6, PMS2
|
4 months, 4 weeks (therapy) |
| Méthodologie |
DNA sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
Urgent genetic testing for therapy, PARP inhibitors is possible.
The procedure and a specific request form (only available in Dutch) can be found under: https://www.cmgg.be/nl/zorgverlener/formulieren/aanvraagformulieren
---> Aanvraagformulier genetisch onderzoek i.k.v. PARP inhibitoren en/of erfelijke prostaat-, pancreas-, borst- en/of ovariumkanker (pdf) |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Pancreatitis, hereditary
|
PRSS1, SPINK1 |
3-4 months |
| Méthodologie |
sequencing exon 2+3 |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Pancreatitis, ideopatische
|
CFTR |
3 mois |
| Méthodologie |
InnoLipa19&17 |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Parent/familiy member of index patient with developmental delay, intellectual disability and epilepsy - Variant analysis (intellectual disability & epilepsy gene panel)
|
|
6 weeks |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Parent/family member of index patient with developmental delay, intellectual disability and epilepsy - Molecular karyotyping
|
|
6 weeks |
| Méthodologie |
Molecular karyotyping |
| Responsable(s) |
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Parent/family member of index patient with developmental delay, mental retardation, epilepsy - Conventional karyotyping
|
- |
6 weeks |
| Méthodologie |
Conventional karyotyping |
| Responsable(s) |
Björn Menten
Annelies Dheedene
|
| Accréditation |
Oui |
| Matériel |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Paroxysomal episodic disorders
|
Paroxysmal episodic disorders panel: gene panel_version 1 gene panel_version 2 |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Hannah Verdin
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Pediatric oncopredisposition
|
Pediatric oncopredisposition panel: genpanel_versie 2 genpanel_versie 3 |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required! |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Pharmacogenetics Abacavir hypersensitivity
|
HLA5701 |
6 weeks |
| Méthodologie |
Hotspot analysis |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Pheochromocytoma – paraganglioma syndrome
|
SDHB, SDHC, SDHD, SDHA, MAX, TMEM127, SDHAF2, VHL, RET, SUCLG2 |
4 mois |
| Méthodologie |
DNA-sequenering en MLPA (MRC Holland: P226, P429, P016) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Polycystische nieren
|
PKD1, PKD2 |
Voorlopig 1 jaar |
| Méthodologie |
DNA sequenering |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Porencephaly gene package
|
COL4A1, COL4A2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Prader-Willi syndroom
|
15q11-q13 |
6 semaines |
| Les synonymes, les conditions liées: |
PWS |
| Méthodologie |
MS-MLPA |
| Responsable(s) |
Elfride De Baere
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Primary congenital Glaucoma
|
LTBP2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Primary immune deficiency, PID diagnostic panel
|
PID panel: genpanel_versie 5 genpanel_versie 6 genpanel_versie 7
|
6 months |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Marieke De Bruyne
Lore Pottie
|
| Accréditation |
Non |
| Remarques |
Clinical checklist required!
https://www.cmgg.be/nl/zorgverlener/formulieren/test-specifieke-vragenlijsten
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Progressive myoclonic epilepsy (PME)
|
gene panel: PME |
6 months |
| Méthodologie |
DNA-sequencing |
| Responsable(s) |
Hannah Verdin
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Prostate cancer
|
ATM, BRCA1, BRCA2, HOXB13, CHEK2, MLH1, MSH2, MSH6 |
4 months, 8 weeks (therapy) |
| Méthodologie |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
Urgent genetic testing for therapy, PARP inhibitors is possible.
The procedure and a specific request form (only available in Dutch) can be found under: https://www.cmgg.be/nl/zorgverlener/formulieren/aanvraagformulieren
---> Aanvraagformulier genetisch onderzoek i.k.v. PARP inhibitoren en/of erfelijke prostaat-, pancreas-, borst- en/of ovariumkanker (pdf) |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Proteïne S (alfa) deficiëntie
|
PROS1 |
6 mois |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Kathleen Claes
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Proteus syndroom
|
AKT1 |
3 mois |
| Méthodologie |
DNA sequenering en bepalen van graad mosaïcisme d.m.v. restrictie en fragment-analyse voor c.49G->A, (p.Glu17Lys) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
Graag ook fibroblasten bezorgen van de aangedane regio |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
Skin biopt
| Abréviation: |
F |
| Type d'acier: |
steriel afgenomen huidbiopt |
| Quantité: |
één huidbiopt |
| Stockage: |
breng onmiddellijk in een steriele recipiënt met steriel kweekmedium of (indien dit niet voorhanden is) steriele fysiologische oplossing (geen formol !) en bewaar het weefsel in de koelkast (2-8°C)
|
| Livraison au laboratoire: |
binnen de 72 uur na afname - in het labo, dit vóór 17 uur (transport mag bij kamertemperatuur) |
| Remarques: |
Verwittig het laboratorium via het secretariaat 09/332 2477 |
|
|
|
Pseudoxanthoma Elasticum (PXE) gene package
|
ABCC6, ENPP1, GGCX, VEGFA(hotspots), CYP2UI |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
PTEN Hamartoma Tumor Syndrome (PHTS)
|
PTEN |
4 mois |
| Les synonymes, les conditions liées: |
Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS). Proteus syndrome |
| Méthodologie |
Sequenering and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
PXE-like syndrome with clotting deficiency
|
GGCX |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Renal cell carcinoma
|
BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PMS2, SDHA, SDHB, SDHC, SDHD, MAX, TMEM127, PTEN, VHL, TSC1, TSC2, HNF1B, PBRM1 |
4 months |
| Méthodologie |
DNA sequencing, MLPA (MRC Holland: P226, P429, P016, P256, P198) and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Respiratory disorders
|
Respiratoire aandoeningen panel: genpanel versie 3 genpanel_versie 2 |
6 months |
| Les synonymes, les conditions liées: |
non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Lore Pottie
|
| Accréditation |
Non |
| Remarques |
Recent clinical report required! |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Retinale dystrofie, early-onset
|
RetNet panel: gene panel_version 4
gene panel_version 5 gene panel_version 7
|
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Elfride De Baere
Marieke De Bruyne
|
| Accréditation |
Oui |
| Remarques |
Recent clinical report required! (contact E. De Baere)
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Retinitis Pigmentosa, X-gebonden
|
RPGR ORF15, RPGR exon 1-14, RP2, OFD1 |
3-4 maanden |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
|
|
|
Retinoschisis, XL
|
RS1 |
3-4 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Rubinstein-Taybi syndroom
|
16p13.3 |
6 semaines |
| Les synonymes, les conditions liées: |
dikke duim-hallux syndroom of syndroom van Rubinstein |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Rubinstein-Taybi syndroom: UPD analyse
|
chr 7 |
2 mois |
| Les synonymes, les conditions liées: |
dikke duim-hallux syndroom of syndroom van Rubinstein |
| Méthodologie |
fragment-analyse microsatellieten chromosoom 7 |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
bloed van beide ouders vereist |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Saethre-Chotzen syndroom
|
TWIST |
3 mois |
| Les synonymes, les conditions liées: |
ACSIII |
| Méthodologie |
DNA-equenering coderende sequentie en MLPA |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Skeletal dysplasia
|
Skeletdysplasia panel: genpanel_versie 2 genpanel_versie 3 genpanel_versie 4
|
9 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Skin disorders
|
Skin disorders gene panel: genpanel_versie 3
genpanel_versie 4
genpanel_versie 5
|
6 months |
| Les synonymes, les conditions liées: |
Skin disorders |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Recent clinical report required!
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Small cell ovarian cancer
|
SMARCA4 |
4 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Smith-Magenis syndroom
|
17p11.2 |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Sorsby fundus dystrofie
|
TIMP3 |
3 mois |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Sotos syndroom - chromosomaal
|
5q35 |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Spinale musculaire atrofie
|
SMN1 |
6 semaines |
| Les synonymes, les conditions liées: |
SMA; SMA type I, SMA type II, SMA type III en SMA type IV Werdnig-Hoffmann, Kugelberg-Welander |
| Méthodologie |
MLPA |
| Responsable(s) |
Kathleen Claes
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Spondyloepiphyseal dysplasia (SED)
|
COL2A1, NKX3-2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Stargardt. ziekte van
|
ABCA4 |
3 mois |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Stickler syndrome gene package
|
COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, LOXL3, LRP2 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Stroke
|
Gene panel: stroke |
6 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Remarques |
Clinical checklist required! (see https://www.cmgg.be/en/professionals/forms/test-specific-questionnaires)
|
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
subfertility-infertility-gamete malfunction
|
Subfertility-infertility-gamete malfunction gene panel: gene panel_version 1 |
6 months |
| Les synonymes, les conditions liées: |
subfertility-infertility-gamete malfunction |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Hannah Verdin
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Supravalvular aortic stenosis
|
ELN |
8 weeks |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Thanatoforic dysplasia (hotspot analysis - p.Arg248; p.Gly370; p.Ser371; p.Tyr373; p.Lys650; p.X806)
|
FGFR3 |
6 weeks |
| Méthodologie |
Hotspot analysis - p.Arg248; p.Gly370; p.Ser371; p.Tyr373; p.Lys650; p.X806 |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Transthyretin amyloidosis
|
ATTR |
2 months |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Trisomie 13
|
chr 13 |
1 semaine |
| Les synonymes, les conditions liées: |
Patau syndroom |
| Méthodologie |
molecular karyotyping, karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Trisomie 18
|
chr 18 |
1 semaine |
| Les synonymes, les conditions liées: |
Edwards syndroom |
| Méthodologie |
molecular karyotyping, karyotying |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Trisomie 21
|
chr 21 |
1 semaine |
| Les synonymes, les conditions liées: |
syndroom van Down |
| Méthodologie |
molecular karyotyping; karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Tuberous sclerosis
|
TSC1, TSC2 |
4 months |
| Méthodologie |
DNA sequencing and MLPA (MRC Holland: P124 en P046) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Turner syndroom
|
chr X |
6 semaines |
| Les synonymes, les conditions liées: |
monosomie X |
| Méthodologie |
karyotypering en FISH |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Ullrich congenital muscular dystrophy gene package
|
COL6A1, COL6A2, COL6A3, COL12A1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Oui |
| Remarques |
Clinical checklist recommended |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Uniparentale disomie
|
chr 7, chr 11, chr 14, chr 15, chr 16 |
2 mois |
| Méthodologie |
fragment-analyse |
| Responsable(s) |
Kathleen Claes
Elfride De Baere
|
| Accréditation |
Non |
| Remarques |
specifieer met chromosoom |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Uniparentale disomie (UPD) analyse chromosoom 16
|
chr 16 |
2 mois |
| Méthodologie |
fragment-analyse microsatellieten chromosoom 16 |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
bloed van beide ouders vereist |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
UPD analyse chromosoom 11
|
chr 11 |
2 mois |
| Les synonymes, les conditions liées: |
Beckwith-Wiedemann syndroom |
| Méthodologie |
fragment-analyse microsatellieten chromosoom 11 |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
bloed van beide ouders vereist |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
UPD analyse chromosoom 14
|
chr 14 |
2 mois |
| Méthodologie |
fragment-analyse microsatellieten chromosoom 14 |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
bloed van beide ouders vereist |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
UPD analyse chromosoom 15
|
chr 15 |
2 mois |
| Méthodologie |
fragment-analyse microsatellieten chromosoom 15 |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Non |
| Remarques |
bloed van beide ouders vereist |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Usher syndroom. type IIA
|
USH2A |
3 - 6 mois |
| Méthodologie |
DNA-sequenering |
| Responsable(s) |
Elfride De Baere
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Vascular mineralisation gene package
|
ANKH, NT5E (=CD73), ENPP1 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Paul Coucke
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Velocardiofaciaal syndroom
|
22q11.2 |
6 semaines |
| Les synonymes, les conditions liées: |
VCFS. DiGeorge. 22q11.2 microdeletie syndroom. CATCH22 |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Vermoeden van chromosomale afwijking - conventionele karyotypering
|
- |
6 semaines |
| Méthodologie |
conventionele karyotypering |
| Responsable(s) |
|
| Accréditation |
Oui |
| Matériel |
Heparine sodium blood (5-10ml)
| Abréviation: |
H |
| Type d'acier: |
ongestold bloed, met natriumheparine als anticoagulans |
| Quantité: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
| Stockage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
| Livraison au laboratoire: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
|
Vermoeden van chromosomale afwijking - moleculaire karyotypering
|
- |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
VEXAS syndrome
|
UBA1 p.(Met41) |
4 - 6 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Lore Pottie
Marieke De Bruyne
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Von Hippel-Lindau syndroom
|
VHL + intronic region: VHL (ENST00000477538.1) c.340+576_340+834 |
4 mois |
| Méthodologie |
DNA-sequenering and MLPA (MRC Holland: P016) |
| Responsable(s) |
Kathleen Claes
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
WAGR syndroom
|
11p13 |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Weill-Marchesani syndrome gene package
|
ADAMTS10, ADAMTS17, FBN1, LTBP2, SMAD4 |
8 weeks |
| Méthodologie |
DNA sequencing |
| Responsable(s) |
Sofie Symoens
|
| Accréditation |
Non |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Williams-Beuren syndroom
|
7q11.23 |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
|
Wolf-Hirschhorn syndroom
|
4ptel |
6 semaines |
| Méthodologie |
molecular karyotyping |
| Responsable(s) |
Frank Speleman
Björn Menten
|
| Accréditation |
Oui |
| Matériel |
(2x5ml) EDTA blood or genomic DNA
| Abréviation: |
E |
| Type d'acier: |
unclotted blood, with EDTA as anticoagulant |
| Quantité: |
EDTA blood (2 x 5ml) or minimum 5 micrograms of DNA with a concentration of at least 25ng/µl and minimum volume of 50µl. For children, 2-5ml EDTA blood is sufficient. |
| Stockage: |
at room temperature, away from direct sunlight |
| Livraison au laboratoire: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
| Remarques: |
Staalinstructies |
|
|
