Genetic tests

Full name Analytes Gene panels Disease Laboratory
Epileptic encephalopathies (virtual gene panel) Centre de Génétique Médicale UCL
Rasopathies (virtual gene panel) Centre de Génétique Médicale UCL
Metabolic disorders including disorders of glycosylation, peroxisomal disorders, organic acidurias, glycogenosis disorders, neurotransmitter disorders (213 genes) Metabolic disorders (213 genes) - VUB Centrum Medische Genetica - UZ Brussel VUB
X-chromosome inactivation Centrum Medische Genetica - UZ Brussel VUB
Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel) Neuromuscular disorders (166 genes) - VUB Centrum Medische Genetica - UZ Brussel VUB
Skeletal dysplasia (gene panel) Skeletal dysplasia (394 genes) - VUB Centrum Medische Genetica - UZ Brussel VUB
Onco-endocrine pathologies (gene panel) Onco-endocine pathologies (50 genes) - UCL Centre de Génétique Médicale UCL
Obesitas, early onset (gene panel) MC4R, MC3R, LEP, LEPR, PCSK1, POMC, SIM1, NTRK2 Obesitas, early onset (8 genes) - VUB Centrum Medische Genetica - UZ Brussel VUB
Epilepsy gene panel Epilepsy gene panel - VUB Centrum Medische Genetica - UZ Brussel VUB
Rendu-Osler-Weber disease (4 genes) Rendu/Osler/weber (4 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Centre de Génétique Médicale UCL
Paraganglioma and pheochromocytoma (gene panel) Paraganglioma and pheochromocytoma (29 genes) - UCL Centre de Génétique Médicale UCL
Hypertrophic cardiomyopathy (gene panel) Hypertrophic cardiomyopathy (75 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Periodic Fever (88 genes) Periodic Fever (88 genes) - ULB Centre de Génétique Humaine - Erasme ULB
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations) ASPA, ELP1, HEXA, FANCC Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA Centrum Medische Genetica - UZ Antwerpen
Breast cancer, hereditary (gene panel) Extended Breast Cancer Panel (26 gene) - VUB Centrum Medische Genetica - UZ Brussel VUB
Alzheimer disease (3 genes) Alzheimer erly-onset disease (3 genes) -KUL Centrum Menselijke Erfelijkheid - KUL
Leigh / NARP Syndrome Leigh syndrome (mtDNA / 37 genes) - VUB Centrum Medische Genetica - UZ Brussel VUB
Renal or urinary tract malformation (CAKUT) (gene panel) Cakut (congenital anomalies of the kidney and urinary tract-1) (69 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital malformation gene panel Congenital malformation gene panel - VUB Centrum Medische Genetica - UZ Brussel VUB
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