Genetic tests

Full name Analytes Gene panels Disease Laboratory
Malignant hypertermia RYR1, CACNA1S Malignant hyperthermia of anesthesia Centrum Medische Genetica - UZ Gent
Combined immunodeficiency (severe), X-linked IL2RG T-B+ severe combined immunodeficiency due to gamma chain deficiency Centrum Menselijke Erfelijkheid - KUL
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
Generalized Arterial Calcification of Infancy ENPP1, ABCC6 Generalized arterial calcification of infancy Centrum Medische Genetica - UZ Gent
Vascular mineralisation ANKH, NT5E, ENPP1 Centrum Medische Genetica - UZ Gent
Usher syndrome (gene panel) CDH23, CLRN1, WHRN, ADGRV1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A Usher syndrome (10 genes) - UZA Centrum Medische Genetica - UZ Antwerpen
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