Genetic tests

Full name Analytes Gene panels Disease Laboratory
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centre de Génétique Humaine - CHU Sart-Tilman
Friedreich ataxia - GAA repeat expansion FXN Friedreich ataxia Centrum Menselijke Erfelijkheid - KUL
Currarino syndrome MNX1 Currarino syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hypophosphatasia ALPL Adult hypophosphatasia, Infantile hypophosphatasia, Odontohypophosphatasia, Perinatal lethal hypophosphatasia, Childhood-onset hypophosphatasia, Prenatal benign hypophosphatasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Primary lymphedema / fetal hydrops (gene panel) Lymphedema / fetal hydrops (27 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, Cardiofaciocutaneous syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Noonan syndrome, Oculodentodigital dysplasia, Microcephaly-lymphedema-chorioretinopathy syndrome, Milroy disease, Lymphedema-distichiasis syndrome, Lymphedema-posterior choanal atresia syndrome, Hennekam syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Lymphangioleiomyomatosis Centre de Génétique Médicale UCL
Oculo Dento Digital Dysplasia GJA1 Oculodentodigital dysplasia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Immunodysregulation - polyendocrinopathy - enteropathy - X-linked (IPEX) syndrome FOXP3 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome Centrum Menselijke Erfelijkheid - KUL
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