Genetic tests

Full name Analytes Gene panels Disease Laboratory
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)
Clouston syndrome GJB6 Hidrotic ectodermal dysplasia Centrum Medische Genetica - UZ Antwerpen
Ectodermal dysplasia GJB6 Hidrotic ectodermal dysplasia 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
Microphthalmia, syndromic 5; Retinal dystrophy, early-onset, and pituitary dysfunction OTX2 Syndromic microphthalmia type 5, Combined pituitary hormone deficiencies, genetic forms, Butterfly-shaped pigment dystrophy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
CYP2C19*2,*3,*17 genotyping - drug metabolism - Pharmacogenetics CYP2C19 Antidepressant or antipsychotic toxicity or dose selection, Resistance to clopidogrel, Voriconazole toxicity Centre de Génétique Médicale UCL
Kabuki syndrome (gene panel) KMT2D, KDM6A, KMT2A, HNRNPK, RAP1A, RAP1B, PACS1 Kabuki (7 genes) - IPG Kabuki syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
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