Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hallervorden-Spatz disease (Neurodegeneration with brain iron accumulation type 1) / HARP syndrome (Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration) PANK2 Classic pantothenate kinase-associated neurodegeneration, Atypical pantothenate kinase-associated neurodegeneration Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Vitelliform Macular Dystrophy BEST1, PRPH2, IMPG1, IMPG2 Best vitelliform macular dystrophy, Adult-onset foveomacular vitelliform dystrophy Centrum Medische Genetica - UZ Gent
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
Vitamin K antagonists toxicity or dose selection - VKORC1 genotyping (-1639G>A + 1173C>T) - Pharmacogenetics VKORC1 Vitamin K antagonists toxicity or dose selection, Prediction of toxicity or dose selection of vitamin K antagonists Centre de Génétique Médicale UCL
Gaucher disease diagnostic (GBA gene sequencing) GBA1 Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Gaucher disease diagnostic (GBA gene hot spot mutations - p.Asn409Ser; p.Leu483Pro; c.84dupG; c.115+1G>A; ) GBA1 Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
Enzymatic dosage Gaucher disease Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, Fetal Gaucher disease Centrum Medische Genetica - UZ Brussel VUB
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