Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hypokalemic periodic paralysis, type 1 (CACNA1S gene hot spot mutations) CACNA1S Hypokalemic periodic paralysis Centrum Medische Genetica - UZ Brussel VUB
Periodic paralysis (myotonia) / Paramyotonia congenita (SCN4A gene) SCN4A Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis Centrum Medische Genetica - UZ Brussel VUB
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centre de Génétique Médicale UCL
Hemophilia B F9 Hemophilia B, Severe hemophilia B, Moderate hemophilia B, Mild hemophilia B, Bleeding disorder in hemophilia B carriers Centrum Menselijke Erfelijkheid - KUL
Factor V- cambridge, liverpool and hong kong variant (hot spot mutations - p.Arg334Thr, p.Arg306) F5 Congenital factor V deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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
X-linked creatine deficiency SLC6A8 X-linked creatine transporter deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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