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
Waardenburg Syndrome types I and III	PAX3		Waardenburg syndrome type 1, Waardenburg syndrome type 3	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel)	EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10	Waardenburg syndrome (6 genes) - UZA	Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome	Centrum Medische Genetica - UZ Antwerpen
Transthyretine amyloïdose	TTR		ATTRV30M amyloidosis, ATTRV122I amyloidosis	Centrum Medische Genetica - UZ Gent
Amyloidosis (TTR full sanger exon sequencing)	TTR		Hereditary ATTR amyloidosis, ATTRV30M amyloidosis, ATTRV122I amyloidosis	Centre de Génétique Humaine - CHU Sart-Tilman
Amyloidosis hereditary / Dystransthyretinemic hyperthyroxinemia	TTR		ATTRV30M amyloidosis, ATTRV122I amyloidosis, Hereditary ATTR amyloidosis	Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Amyloidosis (full sanger screening of the 4 exons for TTR)	TTR		ATTRV30M amyloidosis, ATTRV122I amyloidosis	Centrum Menselijke Erfelijkheid - KUL