Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hereditary Spastic Paraplegia (gene panel) Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Myopathy (gene panel) Myopathy (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Peripheral neuropathy (gene panel) Neuropathy (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Hearing loss, STRC gene STRC Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centrum Medische Genetica - UZ Antwerpen
Amyloidosis, cardiac (full screening of the 4 exons for TTR) TTR Hereditary ATTR amyloidosis Centrum Medische Genetica - UZ Antwerpen
Dementia, young onset (gene panel) Dementia, young onset (gene panel) Centrum Medische Genetica - UZ Antwerpen
Epilepsy without developmental delay, familial (gene panel) (Familial) epilepsy without developmental delay (gene panel) Centrum Medische Genetica - UZ Antwerpen
Adams-Oliver syndrome (gene panel) ARHGAP31, DOCK6, RBPJ, NOTCH1, DLL4, EOGT Adams-Oliver (6 genes) - UZA Adams-Oliver syndrome 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
Breast and Ovarian Cancer, hereditary, HBOC, Familial (gene panel) BRCA1, BRCA2, PALB2, TP53, CHEK2, ATM, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6, BARD1 Breast/ ovarian cancer (12 genes) - UZA Hereditary breast cancer, Hereditary breast and/or ovarian cancer syndrome Centrum Medische Genetica - UZ Antwerpen
Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel) Cardiomyopathy (genepanel) - UZA Familial isolated dilated cardiomyopathy, Familial isolated restrictive cardiomyopathy, Left ventricular noncompaction, Familial isolated arrhythmogenic ventricular dysplasia, right dominant form Centrum Medische Genetica - UZ Antwerpen
Cerebral palsy (gene panel) Cerebral palsy (212 genes) - UZA Centrum Medische Genetica - UZ Antwerpen
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies PMP22 Charcot-Marie-Tooth disease type 1A, Hereditary neuropathy with liability to pressure palsies, Charcot-Marie-Tooth disease type 1E Centrum Medische Genetica - UZ Antwerpen
Clouston syndrome GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (Sequencing CFTR gene) CFTR Cystic fibrosis, Congenital bilateral absence of vas deferens, Hereditary chronic pancreatitis, Idiopathic bronchiectasis Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), (gene panel) Hearing loss (deafness) (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Deafness, autosomal dominant 6/14 / Wolfram syndrome WFS1 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA, Wolfram syndrome Centrum Medische Genetica - UZ Antwerpen
Deafness, autosomal recessive 1A GJB2 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centrum Medische Genetica - UZ Antwerpen
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
Ectodermal dysplasia GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
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