Genetic tests

Full name Analytes Gene panels Disease Laboratory
Mucolipidosis II and III GNPTAB Mucolipidosis type II, Mucolipidosis type III alpha/beta Centrum Medische Genetica - UZ Brussel VUB
Cystic Fibrosis / related disorder CFTR Cystic fibrosis Centrum Menselijke Erfelijkheid - KUL
Myoadenylate deaminase deficiency (AMPD1 gene hot spot mutation - p.Gln12*) AMPD1 Adenosine monophosphate deaminase deficiency Centrum Medische Genetica - UZ Brussel VUB
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier) MT-TK MERRF Centrum Medische Genetica - UZ Brussel VUB
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (full sequencing) (2nd tier) MT-TK MERRF Centrum Medische Genetica - UZ Brussel VUB
Steinert myotonic dystrophy - DMPK gene CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Brussel VUB
Netherton syndrome (SPINK5 gene) SPINK5 Netherton syndrome Centrum Medische Genetica - UZ Brussel VUB
Cystic Fibrosis / Congenital absence of the vas deferens / related disorders (50 hot spot mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Hereditary chronic pancreatitis, Idiopathic bronchiectasis Centrum Menselijke Erfelijkheid - KUL
Neurodevelopmental disorders gene panel Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB Infantile neuroaxonal dystrophy 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
Norrie disease (NDP gene) NDP Norrie disease Centrum Medische Genetica - UZ Brussel VUB
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
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