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Analytes
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Disease
Laboratory
Mucolipidosis II and III
GNPTAB
Mucolipidosis type II
,
Mucolipidosis type III alpha/beta
Centrum Medische Genetica - UZ Brussel VUB
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
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
Oculopharyngeal muscular dystrophy - PABPN1 gene GCN trinucleotide repeats
PABPN1
Oculopharyngeal muscular dystrophy
Centrum Medische Genetica - UZ Brussel VUB
Medium chain acyl-CoA dehydrogenase deficiency (MCAD-ACADM gene)
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
Centrum Medische Genetica - UZ Brussel VUB
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