Genetic tests

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Full name	Analytes	Gene panels	Disease	Laboratory
Bile Acid Synthesis Congenital Defect (gene panel)	AKR1D1, AMACR, CYP7B1, HSD3B7, CYP27A1	Bile Acid Synthesis Congenital Defect (5 genes) - UCL	Congenital bile acid synthesis defect type 2, Congenital bile acid synthesis defect type 4, Cerebrotendinous xanthomatosis, Congenital bile acid synthesis defect type 3, Congenital bile acid synthesis defect type 1	Centre de Génétique Médicale UCL
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion	ATN1		Dentatorubral pallidoluysian atrophy	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion	ATN1		Dentatorubral pallidoluysian atrophy	Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy - ATN1 gene CAG repeat expansion	ATN1		Dentatorubral pallidoluysian atrophy	Centrum Medische Genetica - UZ Brussel VUB
Spinocerebellar ataxia (type 8, 17, 10, 12) + 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
Achondrogenesis / Kniest dysplasia / Hypochondrogenesis	COL2A1		Achondrogenesis type 2, Hypochondrogenesis, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Stickler syndrome type 1	Centrum Medische Genetica - UZ Gent