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Analytes
Gene panels
Disease
Laboratory
Optic atrophy (gene panel)
Optic atrophy - UGent
Centrum Medische Genetica - UZ Gent
Maturity onset Diabete of the Young (MODY), type 5 / Renal cysts and diabetes syndrome (gene panel)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Thalassemia Alpha (2 genes)
HBA1
,
HBA2
Thalassemia Alpha (2 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Retinitis pigmentosa, X-Linked
Retinitis pigmentosa, X-linked - UGent
Centrum Medische Genetica - UZ Gent
Cowden disease (3 genes)
Cowden (3 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Hereditary spastic paraplegia (gene panel - 249 genes)
Hereditary spastic paraplegia (188 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Hyperinsulinism (gene panel)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Pulmonary Arterial Hypertension / Rendu Osler Weber disease (gene panel - 24 genes)
Pulmonary Arterial Hypertension (24 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Amyotrophic lateral sclerosis (gene panel)
Amyotrophic lateral sclerosis (5 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Early-onset severe obesity
Early-onset severe obesity (44 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Hereditary cancer (Breast, ovary, colon) (26 genes)
BRCA1
,
BRCA2
,
BARD1
,
BRIP1
,
CDH1
,
MLH1
,
MSH2
,
MSH6
,
MEN1
,
PTEN
,
RAD50
,
RAD51D
,
STK11
,
TP53
,
CHEK2
,
MUTYH
,
PALB2
,
RAD51C
,
ATM
,
EPCAM
,
BLM
,
NBN
,
PMS2
,
XRCC2
,
ABRAXAS1
,
MRE11
Cancer (Breast, ovary, colon,…) (26 genes) - ULG
Centre de Génétique Humaine - CHU Sart-Tilman
Silver-Russell syndrome (11p15 methylation)
Centrum Menselijke Erfelijkheid - KUL
Alzheimer disease (3 genes)
Alzheimer erly-onset disease (3 genes) -KUL
Centrum Menselijke Erfelijkheid - KUL
Renal cell carcinoma (kidney cancer) (gene panel)
Renal cell carcinoma - UGent
Centrum Medische Genetica - UZ Gent
Aarskog-Scott syndrome
FGD1
Aarskog-Scott syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
alpha-globin hemoglobinopathies
HBA1
Alpha-thalassemia
Centre de Génétique Médicale UCL
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centre de Génétique Médicale UCL
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Prader-Willi syndrome due to imprinting mutation
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Centre de Génétique Humaine - Erasme ULB
Angelman / Prader Willi Syndrome
15q11-q13
,
UBE3A
Angelman syndrome due to imprinting defect in 15q11-q13
,
Angelman syndrome due to maternal 15q11q13 deletion
,
Angelman syndrome due to paternal uniparental disomy of chromosome 15
,
Prader-Willi syndrome due to imprinting mutation
,
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
,
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Centrum Medische Genetica - UZ Antwerpen
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