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Gene panels
Disease
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Mitochondrial disorders (gene panel)
mitochondrial disease, nuclear based (343 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
Epilepsy gene panel
Epilepsy gene panel - VUB
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
Congenital malformation gene panel
Congenital malformation gene panel - VUB
Centrum Medische Genetica - UZ Brussel VUB
Premature Ovarian Failure/Primary Ovarian Insufficiency (POF/POI) (32 genes)
Premature Ovarian Failure/Insufficiency (32 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
Thyroid disgenesis (38 genes)
Thyroid disgenesis (38 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
Breast cancer, hereditary (gene panel)
Extended Breast Cancer Panel (26 gene) - VUB
Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Chitotriosidase
Centrum Medische Genetica - UZ Brussel VUB
X-chromosome inactivation
Centrum Medische Genetica - UZ Brussel VUB
Skeletal dysplasia (gene panel)
Skeletal dysplasia (394 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
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
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
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes
Chromosome 21
,
Chromosome 13
,
Chromosome 18
Centrum Medische Genetica - UZ Brussel VUB
Leigh / NARP Syndrome
Leigh syndrome (mtDNA / 37 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
Lysosomal Storage Disease (gene panel)
Lysomal Storage (64 genes) - VUB
Centrum Medische Genetica - UZ Brussel VUB
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