Amyotrophic Lateral Sclerosis (ALS)
|
ALS panel:
genpanel_versie 1
genpanel versie 3
|
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Hannah Verdin
|
Accreditation |
No |
Remarks |
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! |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Pancreatic cancer, hereditary
|
BRCA1, BRCA2, ATM, PALB2, STK11, CDKN2A, RABL3, MLH1, MSH2, MSH6, PMS2
|
4 months, 4 weeks (therapy) |
Methodology |
DNA sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
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) |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Skeletal dysplasia
|
Skeletdysplasia panel: genpanel_versie 2 genpanel_versie 3 genpanel_versie 4
|
9 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Achondrogenesis type 2
|
COL2A1 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Achondroplasia (hotspot analysis - p.Gly380)
|
FGFR3 |
6 weeks |
Synonyms , related conditions: |
dwarfism |
Methodology |
hotspot analysis - p.Gly380 |
Responsible(s) |
Paul Coucke
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Achromatopsie
|
CNGB3, CNGA3 |
3-4 maanden |
Methodology |
Sequenering |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
|
|
Acrocapitofemoral dysplasia
|
IHH |
8 weken |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Angelman syndrome
|
15q11-15q13 |
6 weeks |
Synonyms , related conditions: |
AS. Happy Puppet syndrome, methylatie chromosoom 15 |
Methodology |
MS-MLPA |
Responsible(s) |
Kathleen Claes
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Aniridia
|
PAX6 |
3-4 months |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Anterior segment dysgenesis
|
FOXC1, PITX2, PITX3, FOXE3 |
3-4 months |
Synonyms , related conditions: |
Axenfeld-Rieger malformatie; Rieger syndroom |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Arrhytmogenic cardiopathy
|
PKP2, DSG2, JUP, TMEM43, DSC2, DSP, PLN, DES |
8 weken |
Methodology |
DNA sequenering |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Arterial Tortuosity Syndrome (ATS) gene package
|
SLC2A10, FBLN4 (=EFEMP2) |
8 weeks |
Synonyms , related conditions: |
ATS |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Arthrogryposis Distal Type 9
|
FBN2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Clinical checklist recommended
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Ataxia spasticity
|
Ataxia-spasticity gene panel: genpanel_versie 1 genpanel_versie 2
|
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Hannah Verdin
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Ataxia telangiectasia
|
ATM |
4 months |
Methodology |
DNA sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
Bij voorkeur eerst alfa-foetoproteïne bepalen |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
BAP1 tumor predisposition syndrome
|
BAP1 |
4 months |
Methodology |
DNA sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Beals-Hecht syndrome / Congenital contractural arachnodactyly (CCA)
|
FBN2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Best macular dystrophy
|
BEST1 |
3-4 months |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Bethlem myopathy gene package
|
COL6A1, COL6A2, COL6A3, COL12A1 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Bicuspid aortic valve (BAV) disease gene package
|
SMAD6, NOTCH1, NKX2.5, GATA5, ROBO4 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Birt-Hogg-Dubé syndrome
|
FLCN |
4 months |
Synonyms , related conditions: |
BHD |
Methodology |
DNA-sequencing and MLPA (MRC Holland - P256) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Blepharophimosis (BPES) type I /II
|
FOXL2 |
3-4 months |
Synonyms , related conditions: |
BPES 1 / 2 |
Methodology |
DNA-sequencing coding sequence and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Bloom syndrome
|
BLM |
4 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Brachydactyly type A1
|
IHH |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Breast- and ovary cancer, hereditary
|
BRCA1 / BRCA2 / PALB2 / TP53 / CHEK2 / ATM / RAD51C / RAD51D / BRIP1/ MLH1 / MSH2 / MSH6 / BARD1 |
4 months, 8 weeks (therapy) |
Methodology |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Remarks |
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) |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Brugada syndrome
|
SCN5A |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Buschke-Ollendorff syndrome (BOS)
|
LEMD3 |
8 weeks |
Synonyms , related conditions: |
BOS |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Butyrylcholinesterase deficiency, included
|
BCHE |
3-4 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
CADASIL
|
NOTCH3 |
3-6 months |
Synonyms , related conditions: |
Cerebral arteriopathy wih subcortical infarcts and leukencephalopathy |
Methodology |
DNA-sequencing of exons with EGFL-domains (exons 2-24) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Carrier screening (BeGECS)
|
Gene panels: Genpanel BeGECS_version 2
|
4 months |
Synonyms , related conditions: |
Expanded carrier screening |
Methodology |
DNA sequencing, MLPA, PCR, TP-PCR and fragment analysis |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Remarks |
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 |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Cataract
|
Gene panel Cataract: Genpanel_versie 2 Genpanel_versie 3 |
6 months |
Methodology |
DNA sequenering |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Catecholaminergic Polymorphic Ventricular Tachycardia
|
CASQ2, RYR2, TRDN, TECRL, CALM1, CALM2, CALM3 |
3-4 months |
Synonyms , related conditions: |
CPVT |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Cerebral small vessel disease gene package
|
COL4A1, COL4A2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Charcot-Marie-Tooth type 1A
|
PMP22 |
8 weeks |
Synonyms , related conditions: |
CMT type 1A/PMP22-duplicatie |
Methodology |
MLPA |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Choroideremia
|
CHM |
3-4 months |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Ciliopathy
|
Ciliopathy gene panel: gene panel_version 2 gene panel_version 3 gene panel_version 4 gene panel_version 5
|
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Lore Pottie
|
Accreditation |
Yes |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Cleft lip/palate syndrome type 3 gene package
|
TP63, AXIN2, WNT10A, PAX9, MSX1, EDA, EDAR, EDARADD |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Colon cancer - Lynch syndrome - methylation promotor MLH1-gene
|
MLH1 |
3 months |
Methodology |
MS-MLPA |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
Paraffine block of tumor
Abbreviation: |
P |
Sample type: |
FFPE-weefsel in de vorm van paraffineblok of coupes op draagglaasjes |
Quantity: |
één paraffineblok of min. 5 draagglaasjes met opeenvolgende coupes (één H&E gekleurd en 4 ongekleurd) |
Storage: |
kamertemperatuur |
Levering aan lab: |
geen speciale voorzorgen nodig, kan per reguliere post, afleveren vóór 17 uur |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Colon cancer, hereditary
|
SMAD4, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, MSH3, POLE, POLD1, BMPR1A, APC, STK11, PTEN, GREM1, EPCAM, RNF43, AXIN2
|
4 months |
Synonyms , related conditions: |
FAP |
Methodology |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Colon cancer, hereditary - Lynch syndrome - microsatellite-instability analysis (MSI)
|
- |
3 months |
Synonyms , related conditions: |
microsatellite instability |
Methodology |
fragment-analysis |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
Paraffine block of tumor
Abbreviation: |
P |
Sample type: |
FFPE-weefsel in de vorm van paraffineblok of coupes op draagglaasjes |
Quantity: |
één paraffineblok of min. 5 draagglaasjes met opeenvolgende coupes (één H&E gekleurd en 4 ongekleurd) |
Storage: |
kamertemperatuur |
Levering aan lab: |
geen speciale voorzorgen nodig, kan per reguliere post, afleveren vóór 17 uur |
|
|
Congenital Central Hypoventilation Syndrome
|
PHOX2B |
3-4 months |
Methodology |
sequencing 3 coding exons |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Remarks |
kortere uitslagtermijn bij neonaat, na overleg |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Congenital structural heart defects gene package
|
CHD panel: Genpanel_versie 1
|
6 months |
Synonyms , related conditions: |
CHD |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Recent clinical report required!
EDTA blood sample from both parents required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Corneal dystrophy
|
Corneal dystrophy panel: gene panel_version 1 gene panel_version 2
gene panel version 3
|
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Remarks |
Recent clinical report required! |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Craniosynostosis
|
Craniosynostose panel: genepanel_versie 1 |
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Craniosynostosis Boston Type
|
MSX2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Craniosynostosis/Apert Syndrome (hotspot analysis - p.Ser252; p.Pro253)
|
FGFR2 |
6 weeks |
Methodology |
Hotspot analysis - p.Ser252; p.Pro253 |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Cutis Laxa gene package
|
Genpanel Cutis Laxa _version 1
|
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Cystic Fibrosis: 50 frequent mutations (first line testing)
|
CFTR |
4 weeks |
Synonyms , related conditions: |
cystic fibrosis |
Methodology |
DNA-sequencing (50 most frequent mutations in the Belgian population) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
Cheek brush
Abbreviation: |
B |
Sample type: |
Wangborsteltje, wangbrush of swab |
Quantity: |
steeds twee stalen afnemen |
Storage: |
op kamertemperatuur of in koelkast, NIET in plastiek zak! |
Levering aan lab: |
binnen de 72 uur na de afname, afleveren vóór 17 uur (op vrijdag vóór 14 uur) |
Remarks: |
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. |
|
|
Cystic Fibrosis: sequencing CFTR gene
|
CFTR |
3 - 4 months |
Synonyms , related conditions: |
cystische fibrose |
Methodology |
DNA-sequencing (full coding sequence CFTR gene) and MLPA |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
wordt pas uitgevoerd indien geen mutatie met de InnoLipa19&17 testen werd geïdentificeerd |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Deficiency of Vitamin K-Dependent Clotting Factors
|
VKORC1, GGCX |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Dicer1 syndroom
|
DICER1 |
4 maanden |
Methodology |
DNA Sequenering and MLPA (MRC Holland - P482) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Dihydropyrimidine dehydrogenase deficiency
|
DPYD |
2-3 weken |
Methodology |
DNA-sequenering |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
|
|
Dilated cardiomyopathy
|
RBM20, TNNC1, DES, TNNT2, FLNC, BAG3, LMNA, MYH7, SCN5A, TTN, DSP, NEXN, ACTC1, TPM1, JPH2, TNNI3, VCL |
3-4 months |
Synonyms , related conditions: |
DCMP |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
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 |
Synonyms , related conditions: |
DSD |
Methodology |
DNA sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Distale Spinale Musculaire atrofie (X-linked distal SMA)
|
ATP7A |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Ectodermal dysplasia gene package
|
Gene panel: Ectodermal dysplasia _version 5 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Ectopia lentis gene package
|
LTBP2, ADAMTSL4, FBN1 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Ectrodactyly gene package
|
TP63, AXIN2, WNT10A, PAX9, MSX1, EDA, EDAR, EDARADD |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Ehlers-Danlos syndrome, EDS
|
Gene panel EDS: genpanel_versie 5
genpanel_versie 1
|
3-4 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Ehlers-Danlos syndrome, vascular type (EDS type IV)
|
COL3A1 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Enhanced S-cone syndrome
|
NR2E3 |
3-4 months |
Synonyms , related conditions: |
ESCS |
Methodology |
DNA-sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Erfelijk melanoom / Familial Atypical Multiple Mole Melanoma Syndrome, FAMMM
|
CDKN2A, POT1, MITF, CDK4, BAP1, MBD4, ACD, TERF2IP, TERT |
4 months |
Synonyms , related conditions: |
MLM; melanoma, cutaneous malignant |
Methodology |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Fabry disease
|
GLA |
3-4 months |
Synonyms , related conditions: |
alpha galactosidase A deficiëntie |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Remarks |
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/
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
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
|
3-4 months |
Synonyms , related conditions: |
FTAA |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Familiale exsudatieve vitreoretinopathie / FEVR
|
FZD4, TSPAN12, LRP5, NDP |
3-4 maand |
Methodology |
DNA-sequenering |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
|
|
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 |
Methodology |
DNA sequencing, MLPA (MRC Holland: P031, P032, P113 en P057) and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Feingold syndrome
|
MYCN |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Fertiliteitsprobleem man - azoöspermia door CAVD
|
CFTR |
4 weeks |
Synonyms , related conditions: |
C(B)AVD congenitale (bilaterale) afwezigheid van de vas deferens |
Methodology |
DNA-sequenering van de 50 meest frequente mutaties in de Belgische populatie |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Fertiliteitsprobleem man - verstoorde spermatogenese
|
Yg11 |
6 weeks |
Synonyms , related conditions: |
DAZ deletie, opsporen deleties AZFa, AZFb, AZFc |
Methodology |
multiplex PCR voor STS op Yg11 |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Fertiliteitsprobleem vrouw - prematuur ovarieel falen
|
FMR1 |
6 weeks |
Synonyms , related conditions: |
POF Prematuur ovariaal falen, FMR1 - gerelateerd |
Methodology |
PCR en TP-PCR en fragment-analyse, eventueel Southern blot hybridisatie |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
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 weeks |
Methodology |
conventionele karyotypering |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
Fetal testing - molecular karyotyping
|
- |
8 days |
Synonyms , related conditions: |
Prenatal testing |
Methodology |
molecular karyotyping |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
Amniotic fluid
Abbreviation: |
V |
Sample type: |
vruchtwater
|
Quantity: |
minimum 10 ml vruchtwater opgevangen in een steriel recipiënt |
Storage: |
bewaar het staal op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
Levering aan lab: |
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 |
Remarks: |
verwittig het laboratorium via het secretariaat 09/332 2477 |
Chorionvilli
Abbreviation: |
CVS |
Sample type: |
chorionvlokken
|
Quantity: |
10 – 20 mg of meer natgewogen chorionvlokken (benodigde hoeveelheid is testgebonden) |
Storage: |
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. |
Levering aan lab: |
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 |
Remarks: |
Verwittig het secretariaat van het laboratorium via 09/332 2477 |
|
|
Foetaal onderzoek - DNA-onderzoek
|
- |
10 workdays |
Synonyms , related conditions: |
Prenataal onderzoek |
Methodology |
meestal DNA-sequenering; methodologie naargelang aandoening |
Responsible(s) |
Elfride De Baere
Kathleen Claes
Paul Coucke
Sofie Symoens
|
Accreditation |
No |
Remarks |
familiale mutatie moet voor de zwangerschap gekarakteriseerd zijn |
Material |
Amniotic fluid
Abbreviation: |
V |
Sample type: |
vruchtwater
|
Quantity: |
minimum 10 ml vruchtwater opgevangen in een steriel recipiënt |
Storage: |
bewaar het staal op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
Levering aan lab: |
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 |
Remarks: |
verwittig het laboratorium via het secretariaat 09/332 2477 |
Chorionvilli
Abbreviation: |
CVS |
Sample type: |
chorionvlokken
|
Quantity: |
10 – 20 mg of meer natgewogen chorionvlokken (benodigde hoeveelheid is testgebonden) |
Storage: |
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. |
Levering aan lab: |
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 |
Remarks: |
Verwittig het secretariaat van het laboratorium via 09/332 2477 |
|
|
Foetaal onderzoek - miskraam
|
- |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Björn Menten
|
Accreditation |
No |
Material |
Miscarriage tissue
|
|
Fragiele X geassocieerd Tremor-Ataxie syndroom
|
FMR1 |
6 weeks |
Synonyms , related conditions: |
FXTAS |
Methodology |
PCR en TP-PCR en fragment-analyse, eventueel Southern blot hybridisatie |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Fragiele X syndroom
|
FMR1 |
6 weeks |
Synonyms , related conditions: |
Fra X. Martin-Bell syndroom |
Methodology |
PCR en TP-PCR en fragment-analyse, eventueel Southern blot hybridisatie |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
FRMD7 related infantile nystagmus
|
FRMD7 |
3-4 months |
Synonyms , related conditions: |
nystagmus |
Methodology |
DNA-sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Gameetdonor (eiceldonor, spermadonor)
|
chromosomenonderzoek |
6 weeks |
Methodology |
conventionele karyotypering |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
Gameetdonor (eiceldonor, spermadonor)
|
CFTR |
4 weeks |
Synonyms , related conditions: |
dragerschap mucoviscidose |
Methodology |
DNA-sequenering van de 50 meest frequente mutaties in de Belgische populatie |
Responsible(s) |
Kathleen Claes
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Gameetdonor (eiceldonor, spermadonor)
|
SMN1 |
6 weeks |
Synonyms , related conditions: |
dragerschap Spinale Musculaire Atrofie (SMA) |
Methodology |
MLPA |
Responsible(s) |
Kathleen Claes
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Gastric cancer, diffuse
|
CDH1, CTNNA1 |
4 months |
Synonyms , related conditions: |
HDGC |
Methodology |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Generalized Arterial Calcification of Infancy (GACI)
|
ENPP1, ABCC6 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Geroderma osteodysplasticum gene package
|
ELN, FBLN4 (=EFEMP2), FBLN5, LTBP4, ATP6V0A2, PYCR1, ALDH18A1, ATP7A, COG7, TALDO1, SCYL1BP1 (=GORAB), NAA10, RIN2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Glaucoma
|
Panel glaucoma: genpanel_versie 1 genpanel_versie 2 |
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Heart gene package / Cardio gene package
|
Cardiopathie panel: genpanel_versie 5 genpanel_versie 6 genpanel_versie 7
|
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hemorrhagic stroke gene package
|
COL4A1, COL4A2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hepatology
|
Hepatology gene panel: gene panel_version 4
gene panel_version 5
|
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Lore Pottie
|
Accreditation |
No |
Remarks |
Recent clinical report required! |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hereditaire drukneuropathie
|
PMP22 |
8 weken |
Synonyms , related conditions: |
HNPP PMP22-deletie |
Methodology |
MLPA |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hereditaire hemochromatose type I
|
HFE |
4 weeks |
Methodology |
DNA-sequencing for detection of Cys282Tyr and His63Asp |
Responsible(s) |
Kathleen Claes
Elfride De Baere
|
Accreditation |
No |
Remarks |
Clinical information necessary: Ferritin and Transferrin saturation |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hereditary angiopathy with nephropathy, aneurysms and muscle cramps syndrome (HANAC) gene package
|
COL4A1, COL4A2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Heterotaxy PCD (Primary ciliary dyskinesia) gene panel
|
Heterotaxie PCD panel: genpanel_versie 1 genpanel_versie 2 genpanel_versie 3
|
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Lore Pottie
|
Accreditation |
Yes |
Remarks |
Recent clinical report required!
Only after consultation in a center for Medical Genetics |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hirschsprung
|
RET, EDNRB, EDN3, SOX10, GDNF, NRG1, NRG3, NRTN, SEMA3C, SEMA3D |
4 months |
Methodology |
DNA sequencing |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Huntington. ziekte van
|
HD |
6 weeks (diagnostic cases), 3 weeks (presymptomatic cases) |
Synonyms , related conditions: |
Huntington chorea |
Methodology |
PCR en fragment-analyse voor bepalen lengte CAG repeat in HD-gen |
Responsible(s) |
Kathleen Claes
Elfride De Baere
|
Accreditation |
Yes |
Remarks |
klinisch neurologisch verslag vereist; presymptomatische test enkel na genetische raadpleging |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hypertrophic Cardiomyopathy
|
ACTC1, CSPR3, JPH2, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2, TPM1, PRKAG2 |
3-4 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Only after consultation in a center for Medical Genetics
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hypochondrogenesis
|
COL2A1 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Hypochondroplasia (hotspot analysis - p.Asn540; p.Ile538; p.Lys650)
|
FGFR3 |
6 weeks |
Methodology |
Hotspot analysis - p.Asn540; p.Ile538; p.Lys650 |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
ID (intellectual disability) and epilepsy
|
gene panel_version 1
gene panel_version 2 gene panel_version 3
gene panel_version 4
gene panel_version 5
gene panel_version 6 gene panel_version 7
|
6 months |
Synonyms , related conditions: |
Intellectual disability, ID, mental retardation, epilepsy, gene panel, panel, exome sequencing, exome |
Methodology |
DNA-sequencing |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Remarks |
EDTA blood sample of both parents required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Identiteitsbepaling
|
- |
2 months |
Synonyms , related conditions: |
Paterniteitsbepaling |
Methodology |
PCR/ Fragmentanalyse |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
Cheek brush
Abbreviation: |
B |
Sample type: |
Wangborsteltje, wangbrush of swab |
Quantity: |
steeds twee stalen afnemen |
Storage: |
op kamertemperatuur of in koelkast, NIET in plastiek zak! |
Levering aan lab: |
binnen de 72 uur na de afname, afleveren vóór 17 uur (op vrijdag vóór 14 uur) |
Remarks: |
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 |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Isolated retinal arteriolar tortuosity gene package
|
COL4A1, COL4A2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
karyotype (bloed)
|
- |
6 weeks |
Methodology |
karyotypering |
Responsible(s) |
Björn Menten
Annelies Dheedene
|
Accreditation |
Yes |
Material |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
karyotype (CVS)
|
- |
1 week |
Methodology |
karyotypering |
Responsible(s) |
Björn Menten
|
Accreditation |
No |
Material |
Chorionvilli
Abbreviation: |
CVS |
Sample type: |
chorionvlokken
|
Quantity: |
10 – 20 mg of meer natgewogen chorionvlokken (benodigde hoeveelheid is testgebonden) |
Storage: |
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. |
Levering aan lab: |
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 |
Remarks: |
Verwittig het secretariaat van het laboratorium via 09/332 2477 |
|
|
karyotype (vruchtwater)
|
- |
3 weeks |
Methodology |
karyotypering |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
Amniotic fluid
Abbreviation: |
V |
Sample type: |
vruchtwater
|
Quantity: |
minimum 10 ml vruchtwater opgevangen in een steriel recipiënt |
Storage: |
bewaar het staal op kamertemperatuur afgeschermd van fel zonlicht en van vriestemperaturen, door in de winter geïsoleerde enveloppen te gebruiken. |
Levering aan lab: |
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 |
Remarks: |
verwittig het laboratorium via het secretariaat 09/332 2477 |
|
|
Klinefelter syndrome
|
XXY |
6 weeks |
Synonyms , related conditions: |
47.XXY |
Methodology |
Karyotyperen en FISH |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
Kniest dysplasia
|
COL2A1 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Lamin A/C
|
LMNA |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Langer-Giedion syndrome
|
8q24 |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Leber congenital amaurosis - Retinal dystrophy, early-onset
|
CEP290. GUCY2D. AIPL1. CRX. CRB1. RPE65 |
3 - 4 months |
Synonyms , related conditions: |
LCA, EORD |
Methodology |
DNA-sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Leri-Weill dyschondrosteosis
|
SHOX |
3-4 months |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Leukodystrophy
|
Leukodystrophy panel: gene panel_version 1 gene panel_version 2 |
6 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Hannah Verdin
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Li Fraumeni syndrome
|
TP53 |
4 months |
Methodology |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Long QT syndrome
|
SCN5A, KCNH2, KCNQ1, CALM2, CALM1, CALM3, TRDN, CACNA1C |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Macular dystrophy
|
PRPH2 (RDS) |
3-4 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Malignant hyperthermia
|
RYR1, CACNA1S |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Marfan syndrome
|
FBN1 |
8 weeks |
Synonyms , related conditions: |
MFS |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Megalocornea
|
LTBP2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Melorheostosis
|
LEMD3 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Mental retardation: molecular karyotyping
|
- |
6 weeks |
Methodology |
Mental retardation: molecular karyotyping |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Microphthalmia/Anophthalmia/Coloboma – Anterieure Segment Dysgenese (MAC-ASD)
|
MAC-ASD panel: gene panel_version 2 gene panel_version 3 |
6 months |
Synonyms , related conditions: |
MAC-ASD |
Methodology |
DNA-sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Microspherophakia
|
LTBP2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Miller-Dieker syndrome
|
17p13.3 |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Movement disorder
|
Movement disorders gene panel: gene panel_versie 1 gene panel_versie 2 |
6 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Hannah Verdin
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Muenke syndrome (hotspot analysis - p.Pro250)
|
FGFR3 |
6 weeks |
Methodology |
Hotspot analysis - p.Pro250 |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
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 |
Synonyms , related conditions: |
mendeliome, multiple congenital anomalies, malformations |
Methodology |
DNA-sequenering |
Responsible(s) |
Machteld Baetens
Sarah Delbaere
Björn Menten
|
Accreditation |
No |
Remarks |
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. |
Material |
|
|
Multipele endocriene neoplasie (MEN) type 1 and 4
|
MEN1, AIP, CDKN1B |
4 months |
Synonyms , related conditions: |
MEN1 |
Methodology |
DNA-sequencing and MLPA (MRC Holland: P017) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Multipele endocriene neoplasie, MEN type 2A, MEN type 2B
|
RET |
4 months |
Synonyms , related conditions: |
Multiple endocriene neoplasie type 2A. type 2B; medullair schildkliercarcinoom. familiale Hirschsprung |
Methodology |
DNA sequencing |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Multiple epiphyseal dysplasia, dominant and recessive type (MED)
|
COL2A1, SLC26A2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Myosclerosis Myopathy gene package
|
COL6A1, COL6A2, COL6A3, COL12A1 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Myotone dystrofie type I
|
DMPK |
6 weeks |
Synonyms , related conditions: |
ziekte van Steinert |
Methodology |
PCR-fragmentanalysis CTG repeat and TP-PCR |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Nanophthalmos
|
MFRP, PRSS56 |
3-4 months |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Nefropathy
|
Nephrogenetics panel: gene panel_version 1 gene panel_version 2 |
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Neurodegeneration with Brain Iron Accumulation (NBIA)
|
Gene panel: NBIA |
6 months |
Synonyms , related conditions: |
NBIA |
Methodology |
DNA-sequencing |
Responsible(s) |
Hannah Verdin
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Neurofibromatose type 2
|
NF2 |
4 months |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Neurofibromatosis type 1
|
NF1 |
4 months ((8 months for melanocytes) |
Synonyms , related conditions: |
Ziekte van von Recklinghausen |
Methodology |
sequencing total cDNA and MLPA |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Remarks |
Clinical checklist required (see https://www.cmgg.be/en/professionals/forms/test-specific-questionnaires) |
Material |
Fresh EDTA blood sample required
Abbreviation: |
E! |
Sample type: |
Vers ongestold bloed, met EDTA als anti-coagulens |
Quantity: |
>= 5 ml (voor neonaten is 1 ml aanvaardbaar) |
Storage: |
na afname op kamertemperatuur (niet in koelkast en niet invriezen) |
Levering aan lab: |
binnen de 48 uur na de afname, afleveren vóór 17 uur (op vrijdag vóór 14 uur) |
Remarks: |
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
Abbreviation: |
F |
Sample type: |
steriel afgenomen huidbiopt |
Quantity: |
één huidbiopt |
Storage: |
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)
|
Levering aan lab: |
binnen de 72 uur na afname - in het labo, dit vóór 17 uur (transport mag bij kamertemperatuur) |
Remarks: |
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 |
Methodology |
DNA-sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Recent clinical report required!
Only after consultation in a center for Medical Genetics
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Neuropathy
|
Neuropathy panel: genpanel_versie 1 genpanel_versie 2 |
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Recent clinical report required! |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Nijmegen Breakage syndrome
|
NBN |
4 months |
Methodology |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Occipital horn syndrome
|
ATP7A |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Occulte maculadystrofie
|
RP1L1 |
3-4 maand |
Methodology |
DNA-sequenering |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
|
|
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 |
Synonyms , related conditions: |
OA1, OCA1. OCA2, OCA3, OCA4, OCA6, OCA7, OCA8 |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Oculocutaneous albinism / Ocular albinism / Isolated nystagmus: second line analysis
|
OCA-OA-Isolated nystagmus: genpanel_versie 1 genpanel_versie 2 |
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Remarks |
Only after first line testing Ocular albinism (GPR143) and/or Oculocutaneous albinism (TYR, OCA2, TYRP1, SLC45A2, SLC24A2, LRMDA, DCT)
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Optic atrophy
|
optic atrophy panel: genpanel_versie 1 genpanel_versie 2 |
6 months |
Methodology |
DNA sequencing and MLPA (OPA1) |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
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
|
3-4 months |
Synonyms , related conditions: |
OI / Osteoporosis |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Osteopoikilosis
|
LEMD3 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Pancreatitis, hereditary
|
PRSS1, SPINK1 |
3-4 months |
Methodology |
sequenering exon 2+3 PRSS1; DNA-sequencing SPINK1 |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Pancreatitis, idiopathic
|
CFTR |
3-4 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Parent/familiy member of index patient with developmental delay, intellectual disability and epilepsy - Variant analysis (intellectual disability & epilepsy gene panel)
|
|
6 weeks |
Methodology |
DNA-sequencing |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Parent/family member of index patient with developmental delay, intellectual disability and epilepsy - Molecular karyotyping
|
|
6 weeks |
Methodology |
Moleculaire karyotypering |
Responsible(s) |
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Parent/family member of index patient with developmental delay, mental retardation, epilepsy - Conventional karyotyping
|
- |
6 weeks |
Methodology |
Conventional karyotyping |
Responsible(s) |
Björn Menten
Annelies Dheedene
|
Accreditation |
Yes |
Material |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
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 |
Methodology |
DNA sequencing |
Responsible(s) |
Hannah Verdin
|
Accreditation |
No |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Pediatric oncopredisposition
|
Pediatric oncopredisposition panel: genpanel_versie 2 genpanel_versie 3 |
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
Recent clinical report required! |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Pharmacogenetics Abacavir hypersensitivity
|
HLA5701 |
6 weeks |
Methodology |
Hotspot analysis |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Pheochromocytoma – paraganglioma syndrome
|
SDHB, SDHC, SDHD, SDHA, MAX, TMEM127, SDHAF2, VHL, RET, SUCLG2 |
4 months |
Methodology |
DNA-sequencing and MLPA (MRC Holland: P226, P429, P016) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Polycystic kidney disease
|
PKD1, PKD2 |
4 months |
Methodology |
DNA sequencing and MLPA |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Porencephaly gene package
|
COL4A1, COL4A2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Prader-Willi syndroom
|
15q11-q13 |
6 weeks |
Synonyms , related conditions: |
PWS |
Methodology |
MS-MLPA |
Responsible(s) |
Elfride De Baere
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Primary congenital Glaucoma
|
LTBP2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Primary immune deficiency, PID diagnostic panel
|
PID panel: genpanel_versie 5 genpanel_versie 6 genpanel_versie 7
|
6 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Marieke De Bruyne
Lore Pottie
|
Accreditation |
No |
Remarks |
Clinical checklist required!
https://www.cmgg.be/nl/zorgverlener/formulieren/test-specifieke-vragenlijsten
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Progressive myoclonic epilepsy (PME)
|
gene panel: PME |
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Hannah Verdin
|
Accreditation |
No |
Remarks |
Recent clinical report required
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Prostate cancer
|
ATM, BRCA1, BRCA2, HOXB13, CHEK2, MLH1, MSH2, MSH6 |
4 months, 8 weeks (therapy) |
Methodology |
DNA-sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
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) |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Proteïne S (alfa) deficiëntie
|
PROS1 |
3-4 months |
Methodology |
DNA-sequenering |
Responsible(s) |
Kathleen Claes
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Proteus syndrome
|
AKT1 |
3-4 months |
Methodology |
DNA sequenering en bepalen van graad mosaïcisme d.m.v. restrictie en fragment-analyse voor c.49G->A, (p.Glu17Lys) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
Graag ook fibroblasten bezorgen van de aangedane regio |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
Skin biopt
Abbreviation: |
F |
Sample type: |
steriel afgenomen huidbiopt |
Quantity: |
één huidbiopt |
Storage: |
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)
|
Levering aan lab: |
binnen de 72 uur na afname - in het labo, dit vóór 17 uur (transport mag bij kamertemperatuur) |
Remarks: |
Verwittig het laboratorium via het secretariaat 09/332 2477 |
|
|
Pseudoxanthoma Elasticum (PXE) gene package
|
ABCC6, ENPP1, GGCX, VEGFA(hotspots), CYP2UI |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
PTEN Hamartoma Tumor Syndrome (PHTS)
|
PTEN |
4 months |
Synonyms , related conditions: |
Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS). Proteus syndrome |
Methodology |
Sequencing and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
PXE-like syndrome with clotting deficiency
|
GGCX |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
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 |
Methodology |
DNA sequencing, MLPA (MRC Holland: P226, P429, P016, P256, P198) and digital MLPA (MRC Holland: D001 Hereditary Cancer Panel 1) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Respiratory disorders
|
Respiratoire aandoeningen panel: genpanel versie 3 genpanel_versie 2 |
6 months |
Synonyms , related conditions: |
non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease |
Responsible(s) |
Lore Pottie
|
Accreditation |
No |
Remarks |
Recent clinical report required! |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Retinal dystrophy
|
RetNet panel: gene panel_version 4
gene panel_version 5 gene panel_version 7
|
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Elfride De Baere
Marieke De Bruyne
|
Accreditation |
Yes |
Remarks |
Recent clinical report required! (contact Prof E. De Baere)
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Retinitis Pigmentosa, X-linked
|
RPGR ORF15, RPGR exon 1-14, RP2, OFD1 |
3-4 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Retinoschisis, XL
|
RS1 |
3-4 months |
Methodology |
DNA sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Rubinstein-Taybi syndroom
|
16p13.3 |
6 weeks |
Synonyms , related conditions: |
dikke duim-hallux syndroom of syndroom van Rubinstein |
Methodology |
molecular karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Rubinstein-Taybi syndroom: UPD analyse
|
chr 7 |
2 months |
Synonyms , related conditions: |
dikke duim-hallux syndroom of syndroom van Rubinstein |
Methodology |
fragment-analyse microsatellieten chromosoom 7 |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
bloed van beide ouders vereist |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Saethre-Chotzen syndroom
|
TWIST |
3-4 months |
Synonyms , related conditions: |
ACSIII |
Methodology |
DNA-sequencing coding sequence and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Skin disorders
|
Skin disorders gene panel: genpanel_versie 3 genpanel_versie 4 genpanel_versie 5 |
6 months |
Synonyms , related conditions: |
Skin disorders |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Recent clinical report required!
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Small cell ovarian cancer
|
SMARCA4 |
4 maanden |
Methodology |
DNA sequencing |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Smith-Magenis syndroom
|
17p11.2 |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Sorsby fundus dystrophy
|
TIMP3 |
3-4 months |
Methodology |
DNA-sequencing |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Sotos syndroom - chromosomaal
|
5q35 |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Spinal muscular atrophy
|
SMN1 |
6 weeks |
Synonyms , related conditions: |
SMA; SMA type I, SMA type II, SMA type III en SMA type IV Werdnig-Hoffmann, Kugelberg-Welander |
Methodology |
MLPA |
Responsible(s) |
Kathleen Claes
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Spondyloepiphyseal dysplasia (SED)
|
COL2A1, NKX3-2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Stargardt disease
|
ABCA4 |
3-4 months |
Methodology |
DNA-sequenering |
Responsible(s) |
Elfride De Baere
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Stickler syndrome gene package
|
COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, LOXL3, LRP2 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Stroke
|
Gene panel: stroke |
6 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Remarks |
Clinical checklist required! (see https://www.cmgg.be/en/professionals/forms/test-specific-questionnaires)
|
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
subfertility-infertility-gamete malfunction
|
Subfertility-infertility-gamete malfunction panel: gene panel_version 1 |
6 months |
Synonyms , related conditions: |
subfertility-infertility-gamete malfunction |
Methodology |
DNA sequencing |
Responsible(s) |
Hannah Verdin
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Supravalvular aortic stenosis
|
ELN |
8 weeks |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Thanatoforic dysplasia (hotspot analysis - p.Arg248; p.Gly370; p.Ser371; p.Tyr373; p.Lys650; p.X806)
|
FGFR3 |
6 weeks |
Methodology |
Hotspot analysis - p.Arg248; p.Gly370; p.Ser371; p.Tyr373; p.Lys650; p.X806 |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Transthyretin amyloidosis
|
ATTR |
2 months |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Trisomie 13
|
chr 13 |
1 week |
Synonyms , related conditions: |
Patau syndroom |
Methodology |
molecular karyotyping, karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
Trisomie 18
|
chr 18 |
1 week |
Synonyms , related conditions: |
Edwards syndroom |
Methodology |
molecular karyotyping, karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
Trisomie 21
|
chr 21 |
1 week |
Synonyms , related conditions: |
syndroom van Down |
Methodology |
molecular karyotyping, karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
Tuberous sclerosis
|
TSC1, TSC2 |
4 months |
Methodology |
DNA sequencing and MLPA (MRC Holland: P124 en P046) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Turner syndroom
|
chr X |
6 weeks |
Synonyms , related conditions: |
monosomie X |
Methodology |
karyotypering en FISH |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
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 |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
Yes |
Remarks |
Clinical checklist recommended |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Uniparental disomy
|
chr 7, chr 11, chr 14, chr 15, chr 16 |
2 months |
Methodology |
fragment-analyse |
Responsible(s) |
Kathleen Claes
Elfride De Baere
|
Accreditation |
No |
Remarks |
specifieer met chromosoom |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Uniparental disomy (UPD) analysis chromosome 16
|
chr 16 |
2 months |
Methodology |
fragment-analyse microsatellieten chromosoom 16 |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
bloed van beide ouders vereist |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
UPD analyse chromosoom 11
|
chr 11 |
2 months |
Synonyms , related conditions: |
Beckwith-Wiedemann syndroom |
Methodology |
fragment-analyse microsatellieten chromosoom 11 |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
bloed van beide ouders vereist |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
UPD analyse chromosoom 14
|
chr 14 |
2 months |
Methodology |
fragment-analyse microsatellieten chromosoom 14 |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
bloed van beide ouders vereist |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
UPD analyse chromosoom 15
|
chr 15 |
2 months |
Methodology |
fragment-analyse microsatellieten chromosoom 15 |
Responsible(s) |
Kathleen Claes
|
Accreditation |
No |
Remarks |
bloed van beide ouders vereist |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Usher syndroom. type IIA
|
USH2A |
3 - 4 months |
Methodology |
DNA-sequencing and MLPA |
Responsible(s) |
Elfride De Baere
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Vascular mineralisation gene package
|
ANKH, NT5E (=CD73), ENPP1 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Paul Coucke
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Velocardiofaciaal syndroom
|
22q11.2 |
6 weeks |
Synonyms , related conditions: |
VCFS. DiGeorge. 22q11.2 microdeletie syndroom. CATCH22 |
Methodology |
molecular karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Vermoeden van chromosomale afwijking - conventionele karyotypering
|
- |
6 weeks |
Methodology |
conventionele karyotypering |
Responsible(s) |
|
Accreditation |
Yes |
Material |
Heparine sodium blood (5-10ml)
Abbreviation: |
H |
Sample type: |
ongestold bloed, met natriumheparine als anticoagulans |
Quantity: |
5-10 ml (minimum ≥ 2,5 ml; voor neonaten is 0,5 ml aanvaardbaar) |
Storage: |
op kamertemperatuur, afgeschermd van fel zonlicht |
Levering aan lab: |
binnen de 48 uur na de afname, te leveren vóór 17 uur (op vrijdag vóór 14 uur) |
|
|
Vermoeden van chromosomale afwijking - moleculaire karyotypering
|
- |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
VEXAS syndrome
|
UBA1 p.(Met41) |
4 - 6 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Lore Pottie
Marieke De Bruyne
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Von Hippel-Lindau syndrome
|
VHL + intronic region: VHL (ENST00000477538.1) c.340+576_340+834 |
4 months |
Methodology |
DNA-sequencing and MLPA (MRC Holland: P016) |
Responsible(s) |
Kathleen Claes
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
WAGR syndroom
|
11p13 |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Weill-Marchesani syndrome gene package
|
ADAMTS10, ADAMTS17, FBN1, LTBP2, SMAD4 |
8 weeks |
Methodology |
DNA sequencing |
Responsible(s) |
Sofie Symoens
|
Accreditation |
No |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Williams-Beuren syndroom
|
7q11.23 |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|
Wolf-Hirschhorn syndroom
|
4ptel |
6 weeks |
Methodology |
molecular karyotyping |
Responsible(s) |
Frank Speleman
Björn Menten
|
Accreditation |
Yes |
Material |
(2x5ml) EDTA blood or genomic DNA
Abbreviation: |
E |
Sample type: |
unclotted blood, with EDTA as anticoagulant |
Quantity: |
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. |
Storage: |
at room temperature, away from direct sunlight |
Levering aan lab: |
Within 72 hours after the sample was taken, to deliver before 5 pm (on Fridays before 2 pm) |
Remarks: |
Staalinstructies |
|
|