Genetic tests

Full name Analytes Gene panels Disease Laboratory
Lipodystrophy (2 genes) AGPAT2, BSCL2 Lipodystrophy (2 genes) - IPG Congenital generalized lipodystrophy, Severe neurodegenerative syndrome with lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 1 AGPAT2 Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His) BSCL2 Autosomal dominant spastic paraplegia type 17, Severe neurodegenerative syndrome with lipodystrophy, Distal hereditary motor neuropathy type 5, Congenital generalized lipodystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
CYP2C9*2,*3 genotyping - drug metabolism - Pharmacogenetics CYP2C9 Vitamin K antagonists toxicity or dose selection, Oral antidiabetic drugs toxicity or dose selection Centre de Génétique Médicale UCL
Hyperoxaluria AGXT, GRHPR, HOGA1 Primary hyperoxaluria type 1, Primary hyperoxaluria type 2, Primary hyperoxaluria type 3 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion ATXN8, ATXN10, PPP2R2B, TBP Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 10, Spinocerebellar ataxia type 12, Spinocerebellar ataxia type 17 Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion ATXN8, TBP, ATN1 Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 17, Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
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