Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Neuroblastoma (2 genes) ALK, PHOX2B Neuroblastoma (2 genes) - UCL Neuroblastoma Centre de Génétique Médicale UCL
Vascular malformations (somatic) AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1 Vascular malformations (somatic) (19 genes) - UCL Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome Centre de Génétique Médicale UCL
Immunodeficiency 30 / Susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency IL12RB1 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency Centrum Menselijke Erfelijkheid - KUL
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