Genetic tests

Full name Analytes Gene panels Disease Laboratory
Leydig cell hypoplasia or Precocious puberty, male-limited LHCGR Familial peripheral male-limited precocious puberty, Leydig cell hypoplasia due to partial LH resistance, Leydig cell hypoplasia due to complete LH resistance Centre de Génétique Humaine - Erasme ULB
Temple syndrome / Kagami-Ogata Syndrome DLK1, MEG3, RTL1 Temple syndrome due to maternal uniparental disomy of chromosome 14, Temple syndrome due to paternal 14q32.2 hypomethylation, Temple syndrome due to paternal 14q32.2 microdeletion, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation, Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Centre de Génétique Médicale UCL
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
Hearing loss, STRC gene STRC Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centrum Medische Genetica - UZ Antwerpen
Recessive nonsyndromic hearing loss and deafness DFNB (2 genes) GJB2, GJB6 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal recessive 1A GJB2 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centrum Medische Genetica - UZ Antwerpen
Frequent hearing deficiency (4 genes) GJB2, GJB6, STRC, OTOA Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - Erasme ULB
Recessive nonsyndromic hearing loss and deafness (2 genes) GJB2, GJB6 Non syndromic hearing loss and deafness (2 genes) - IPG - ULG Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Centre de Génétique Humaine - CHU Sart-Tilman