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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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