Center for Medical Genetics Center for Medical Genetics

Constitutional genetic conditions

  • Analyses
  • Explanation
Filter:
Condition Gen / Locus / Chromosome Duration
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 BELAC Accreditation

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 BELAC Accreditation

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) BELAC Accreditation 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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation 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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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) BELAC Accreditation

-

 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) BELAC Accreditation

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 BELAC Accreditation

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) BELAC Accreditation

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 BELAC Accreditation

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) BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation 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 BELAC Accreditation 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 BELAC Accreditation 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 BELAC Accreditation - 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
Abbreviation: M

Fragiele X geassocieerd Tremor-Ataxie syndroom BELAC Accreditation 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 BELAC Accreditation 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) BELAC Accreditation 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) BELAC Accreditation

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) BELAC Accreditation 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 BELAC Accreditation

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 BELAC Accreditation 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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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) BELAC Accreditation

-

 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) BELAC Accreditation - 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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation - 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 BELAC Accreditation

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) BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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) BELAC Accreditation 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 BELAC Accreditation 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 BELAC Accreditation

-

 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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation 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) BELAC Accreditation

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 BELAC Accreditation 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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation 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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation - 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 BELAC Accreditation

-

 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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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 BELAC Accreditation

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

Postnatal analyses

Constitutional genetic conditions are congenital and genetic. The genetic deficiency was already present in the germ line (sperm cells and ovules). The genetic deficiency can be shown in all cells.

The below table lists the constitutional conditions wherefore the Centre for Medical Genetics Ghent executes genetic tests. Herewith, the name of the responsible lab person, as well as information on the applied technique and the responsible gen, sample type and quantity and the maximal run time (for emergency analyses different run times apply).

For conditions that are not listed possible genetic testing is possible at another Belgian genetic centre or at a foreign lab. Please contact us if you wish to apply for a genetic test for a condition different from those listed in the below table.

Prenatal analyses

Some of the tests for constitutional conditions are performed on prenatal-taken samples (chorionic villi, amniotic fluid). Examples of indications are ultrasound deviations or familial condition risks. The condition for a prenatal analysis for a familial condition is that the usefulness and the advisability of the examination was thoroughly discussed with the parents and that the familial genetic deficiency was characterized BEFORE pregnancy so the prenatal analysis can be restricted to a targeted mutation or biochemical examination.In that case the turnaround time of the prenatal test will be maximum 10 working days.

NIPT

Information about the NIPT

Submitted on 18 October 2013 - 12:39



Last updated: 11 September 2023 - 12:31
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