Genetic tests

Full name Analytes Gene panels Disease Laboratory
Stickler syndrome (gene panel) Stickler syndrome - UGent Stickler syndrome type 1, Stickler syndrome type 2, Autosomal dominant otospondylomegaepiphyseal dysplasia Centrum Medische Genetica - UZ Gent
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) + 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
Neurofibromatosis type 1 / Legius syndrome (2 genes) NF1, SPRED1 Neurofibromatosis type 1, Legius syndrome Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type 1 / Legius syndrome NF1, SPRED1 Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome Centrum Medische Genetica - UZ Gent
Endometrial cancer (gene panel) Endometrial Cancer (7 genes) - KUL Endometrial Cancer Centrum Menselijke Erfelijkheid - KUL