Genetic tests

Full name Analytes Gene panels Disease Laboratory
Familial cancer predisposition (gene panel) Hereditary cancer predisposition - UGent Centrum Medische Genetica - UZ Gent
Achondroplasia (hot spot mutation - p.Glu380Arg in FGFR3 gene) FGFR3 Achondroplasia Centrum Medische Genetica - UZ Gent
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to imprinting mutation, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centrum Medische Genetica - UZ Gent
Cystic Fibrosis / Congenital bilateral absence of vas deferens (CBAVD) / Idiopathic pancreatitis (50 recurrent mutations) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Hereditary chronic pancreatitis, Idiopathic bronchiectasis Centrum Medische Genetica - UZ Gent
Cystic Fibrosis CFTR Cystic fibrosis Centrum Medische Genetica - UZ Gent
Fragile X syndrome/POF/FXTAS - CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers Centrum Medische Genetica - UZ Gent
Huntington disease - CAG repeat expansion HTT Huntington disease Centrum Medische Genetica - UZ Gent
Steinert myotonic dystrophy - CTG repeat expansion DMPK Steinert myotonic dystrophy Centrum Medische Genetica - UZ Gent
Neurofibromatosis type 1 / Legius syndrome NF1, SPRED1 Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome Centrum Medische Genetica - UZ Gent
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 SMN1, SMN2 Proximal spinal muscular atrophy type 1, Proximal spinal muscular atrophy type 2, Proximal spinal muscular atrophy type 3, Proximal spinal muscular atrophy type 4 Centrum Medische Genetica - UZ Gent
Non Invasive Prenatal Testing (NIPT) of trisomies 13, 18 et 21 and sex chromosomes Chromosome 21, Chromosome 13, Chromosome 18 Down syndrome, Trisomy 13, Trisomy 18 Centrum Medische Genetica - UZ Gent
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