Genetic tests

Full name Analytes Gene panels Disease Laboratory
Corneal dystrophy (gene panel) Corneal dystrophy - UGent Centrum Medische Genetica - UZ Gent
Skeletal dysplasia (gene panel) Skeletal dysplasia - UGent Centrum Medische Genetica - UZ Gent
BAP1-tumor predisposition syndrome BAP1 BAP1-related tumor predisposition syndrome Centrum Medische Genetica - UZ Gent
Familial cancer predisposition (gene panel) Hereditary cancer predisposition - UGent Centrum Medische Genetica - UZ Gent
Amyotrophic Lateral Sclerosis (ALS) (gene panel) Amyotrophic Lateral Sclerosis (ALS) - UGent Amyotrophic lateral sclerosis, Juvenile amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis type 4 Centrum Medische Genetica - UZ Gent
Pediatric oncopredisposition (gene panel) Pediatric oncopredisposition - UGent Centrum Medische Genetica - UZ Gent
Hepatology (gene panel) Hepatology panel - UGent Centrum Medische Genetica - UZ Gent
Respiratory disorders (gene panel): non-CF bronchiectasis; pulmonary hypertension; interstitial lung disease Respiratory Disorders panel (137 genes) - Ugent Centrum Medische Genetica - UZ Gent
Arrhytmogenic cardiopathy Arrhytmogenic cardiopathy - UGent Centrum Medische Genetica - UZ Gent
Dilated cardiomyopathy Dilated cardiomyopathy - UGent Centrum Medische Genetica - UZ Gent
Supravalvular aortic stenosis ELN Centrum Medische Genetica - UZ Gent
Fertilisation failure-oocyte maturation arrest-embryonic arrest (gene panel) Subfertility, infertility and gamete malfunction - UGent Centrum Medische Genetica - UZ Gent
Myopia (early onset high myopia) Myopia gene panel - UGent Centrum Medische Genetica - UZ Gent
Craniosynostosis (gene panel) Craniosynostosis (UZ Gent) Centrum Medische Genetica - UZ Gent
Tuberous sclerosis TSC1, TSC2 Tuberous sclerosis complex Centrum Medische Genetica - UZ Gent
Treatable intellectual disability (tID) Treatable intellectual disability (tID) Centrum Medische Genetica - UZ Gent
Colorectal cancer, hereditary (gene panel) Hereditary colorectal cancer (Adenomatous polyposis, Lynch, Peutz- Jeghers, juvenile polyposis, PPAP, NAP) - UGent 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
Aniridia PAX6 Aniridia-cerebellar ataxia-intellectual disability syndrome, Isolated aniridia Centrum Medische Genetica - UZ Gent
Anterior segment dysgenesis Anterior segment dysgenesis - UGent Anterior segment developmental anomaly, Axenfeld-Rieger syndrome, Rieger anomaly Centrum Medische Genetica - UZ Gent
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