Genetic tests

Full name Analytes Gene panels Disease Laboratory
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 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centrum Medische Genetica - UZ Antwerpen
Angelman / Prader Willi Syndrome 15q11-q13, UBE3A Angelman syndrome due to imprinting defect in 15q11-q13, Angelman syndrome due to maternal 15q11q13 deletion, Prader-Willi syndrome due to imprinting mutation, Angelman syndrome due to paternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Centre de Génétique Humaine - Erasme ULB
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 2, Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 Centre de Génétique Humaine - CHU Sart-Tilman
MODY : Maturity onset Diabete of the Young (gene panel) ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11 MODY - Maturity onset Diabete of the Young (21 genes) - IPG MODY Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (gene panel) Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA MODY Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Menselijke Erfelijkheid - KUL
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene) DMD Duchenne muscular dystrophy, Becker muscular dystrophy, Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers Centre de Génétique Humaine - CHU Sart-Tilman
Lissencephaly / subcortical band heterotopia PAFAH1B1 Lissencephaly due to LIS1 mutation, Subcortical band heterotopia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Lissencephaly, X-linked / subcortical band heterotopia DCX Lissencephaly type 1 due to doublecortin gene mutation, Subcortical band heterotopia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Malformations of cortical development (235 genes) Malformations of cortical development (235 genes) - VUB Bilateral perisylvian polymicrogyria, Cobblestone lissencephaly without muscular or ocular involvement, Lissencephaly due to LIS1 mutation, Lissencephaly due to TUBA1A mutation, Lissencephaly syndrome, Norman-Roberts type, Lissencephaly type 1 due to doublecortin gene mutation, Microlissencephaly, Polymicrogyria due to TUBB2B mutation, Subcortical band heterotopia, X-linked lissencephaly with abnormal genitalia Centrum Medische Genetica - UZ Brussel VUB
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