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Analytes
Gene panels
Disease
Laboratory
Achondroplasia (FGFR3 hot spot mutation - p.Gly380)
FGFR3
Achondroplasia
Centrum Medische Genetica - UZ Brussel VUB
Alport autosomal recessive and X-linked and hematuria (3 genes)
COL4A3
,
COL4A4
,
COL4A5
Alport (X-linked and recessive) (3 genes) - IPG
Autosomal recessive Alport syndrome
,
X-linked Alport syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Alzheimer disease (gene panel)
APP
,
PSEN1
,
PSEN2
,
APOE
Early-onset autosomal dominant Alzheimer disease
,
Behavioral variant of frontotemporal dementia
,
Semantic dementia
,
Progressive non-fluent aphasia
Centre de Génétique Humaine - Erasme ULB
Amyloidosis hereditary (gene panel)
Amyloidosis (3 genes) - ULB
Centre de Génétique Humaine - Erasme ULB
Amyotrophic lateral sclerosis (gene panel)
Amyotrophic lateral sclerosis (5 genes) - KUL
Centrum Menselijke Erfelijkheid - KUL
Amyotrophic lateral sclerosis (GGGGCC repeat expansion in the C9ORF72 gene)
C9ORF72
Amyotrophic lateral sclerosis
,
Frontotemporal dementia with motor neuron disease
,
Behavioral variant of frontotemporal dementia
,
Huntington disease-like syndrome due to C9ORF72 expansions
Centrum Menselijke Erfelijkheid - KUL
Androgen insensitivity (AR gene)
AR
Partial androgen insensitivity syndrome
,
Complete androgen insensitivity syndrome
Centrum Medische Genetica - UZ Brussel VUB
Antithrombine III deficiency (thrombophilia) (SERPINC1 gene)
SERPINC1
Hereditary thrombophilia due to congenital antithrombin deficiency
Centrum Medische Genetica - UZ Brussel VUB
Arrhytmogenic cardiopathy
Arrhytmogenic cardiopathy - UGent
Centrum Medische Genetica - UZ Gent
Arteriovenous malformation (gene panel)
Arteriovenous malformation (7 genes)
,
Vascular malformations (germline) (38 genes) - UCL
Hereditary hemorrhagic telangiectasia
,
Heritable pulmonary arterial hypertension
,
Familial cerebral saccular aneurysm
,
Vein of Galen aneurysmal malformation
,
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
,
Capillary malformation-arteriovenous malformation
,
Parkes Weber syndrome
,
Microcephaly-capillary malformation syndrome
Centre de Génétique Médicale UCL
Ataxia telangiectasia
ATM
Ataxia-telangiectasia
Centrum Medische Genetica - UZ Gent
Atypical Hemolytic Uremic Syndrome (aHUS) (gene panel)
Atypical Hemolytic Uremic Syndrome (aHUS) and Complement disorders (17 genes) - IPG
Hemolytic uremic syndrome with DGKE deficiency
,
Atypical hemolytic uremic syndrome with anti-factor H antibodies
,
Atypical hemolytic uremic syndrome with complement gene abnormality
,
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
,
Atypical hemolytic-uremic syndrome with B factor anomaly
,
Atypical hemolytic-uremic syndrome with H factor anomaly
,
Atypical hemolytic-uremic syndrome with C3 anomaly
,
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
,
Atypical hemolytic-uremic syndrome with I factor anomaly
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Autism (gene panel)
Autism (57 genes) - IPG
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
BAP1-related tumor predisposition syndrome (TPDS)
BAP1
Familial melanoma
Centrum Menselijke Erfelijkheid - KUL
BAP1-tumor predisposition syndrome
BAP1
BAP1-related tumor predisposition syndrome
Centrum Medische Genetica - UZ Gent
Beta-globin hemoglobinopathies, Sickle cell anemia (HbS) (HBB hot spot mutation - p.Glu6Val)
HBB
Sickle cell anemia
Centrum Medische Genetica - UZ Brussel VUB
Beta-globin hemoglobinopathies (Hot-spot mutations : Sickle cell disease (HBS), hemoglobin C, hemoglobin E or Hemoglobin D)
HBB
Sickle cell anemia
,
Hemoglobin C disease
,
Hemoglobin E disease
,
Hemoglobin D disease
,
Delta-beta-thalassemia
,
Sickle cell-beta-thalassemia disease syndrome
,
Beta-thalassemia intermedia
,
Beta-thalassemia major
Centre de Génétique Humaine - CHU Sart-Tilman
Beta-globin hemoglobinopathies, Hemoglobinopathy C (HbC) (HBB hot spot mutation - p.Glu6Lys)
HBB
Hemoglobin C disease
Centrum Medische Genetica - UZ Brussel VUB
Breast and Ovarian Cancer, HBOC, Familial (17 genes)
BRCA1
,
BRCA2
,
TP53
,
PALB2
,
CHEK2
,
ATM
,
BRIP1
,
RAD51C
,
RAD51D
,
MLH1
,
MSH2
,
MSH6
,
BARD1
,
CDH1
,
EPCAM
,
PMS2
,
PTEN
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique Médicale UCL
Breast and Ovarian Cancer, HBOC, Familial (12 genes)
Breast/Ovarian cancer (12 genes) - IPG
Hereditary breast and/or ovarian cancer syndrome
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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