Genetic tests

Full name Analytes Gene panels Disease Laboratory
Developmental disorders: intellectual disability and multiple congenital anomalies (gene panel) Developmental disorders: intellectual disability and multiple congenital anomalies (gene panel) - KUL Centrum Menselijke Erfelijkheid - KUL
Arrhytmogenic cardiopathy Arrhytmogenic cardiopathy - UGent Centrum Medische Genetica - UZ Gent
Dilated cardiomyopathy Dilated cardiomyopathy - UGent Centrum Medische Genetica - UZ Gent
VEXAS-syndrome UBA1 VEXAS syndrome Centrum Medische Genetica - UZ Gent
Supravalvular aortic stenosis ELN Centrum Medische Genetica - UZ Gent
Hirschsprung disease Hirschsprung disease - Ugent Hirschsprung disease Centrum Medische Genetica - UZ Gent
Small cell carcinoma of the ovary SMARCA4 Small cell carcinoma of the ovary Centrum Medische Genetica - UZ Gent
Movement Disorders (gene panel) Movement Disorders - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3) DPYD 5-fluorouracil toxicity Centrum Medische Genetica - UZ Antwerpen
Keratinopathic ichthyosis (epidermolytic ichtyosis, superficial epidermolytic ichthyosis, congenital reticular ichthyosiform erythroderma) (3 genes) keratinopathic ichthyosis (3 genes) - KUL Autosomal dominant epidermolytic ichthyosis, Superficial epidermolytic ichthyosis, Congenital reticular ichthyosiform erythroderma Centrum Menselijke Erfelijkheid - KUL
Dementia, young onset (gene panel) Dementia, young onset (gene panel) Centrum Medische Genetica - UZ Antwerpen
Lipodystrophy and/or hyperinsulinism (gene panel) Lipodystrophy and/or hyperinsulinism (30 genes) - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Obesity (gene panel) Obesity - 13 genes - IPG Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) – (DNAJC30 gene) DNAJC30 Leber hereditary optic neuropathy Centrum Medische Genetica - UZ Brussel VUB
Stickler syndrome (gene panel) Stickler (6 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Osteogenesis Imperfecta (gene panel) Osteogenesis Imperfecta (25 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Craniosynostosis (gene panel) Craniosynostosis (32 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Skeletal Dysplasia (gene panel) Centrum Menselijke Erfelijkheid - KUL
Genetic disorders of Calcium and Phosphate metabolism (gene panel) Genetic disorders of Calcium and Phosphate metabolism (31 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Dystonia (gene panel) Dystonia (68 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
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