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)
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
Hemophilia A F8 Hemophilia A, Severe hemophilia A, Moderate hemophilia A, Mild hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia A (inversions) F8 Severe hemophilia A, Bleeding disorder in hemophilia A carriers Centre de Génétique Médicale UCL
Hemophilia A F8 Hemophilia A, Mild hemophilia A, Severe hemophilia A, Moderate hemophilia A, Bleeding disorder in hemophilia A carriers Centrum Menselijke Erfelijkheid - KUL
Congenital Central Hypoventilation Syndrome / Ondine syndrome PHOX2B Congenital central hypoventilation syndrome Centrum Medische Genetica - UZ Gent
Neuroblastoma (2 genes) ALK, PHOX2B Neuroblastoma (2 genes) - UCL Neuroblastoma Centre de Génétique Médicale UCL
Coagulopathies (2 genes) ITGA2B, ITGB3 Autosomal dominant macrothrombocytopenia, Glanzmann thrombasthenia, Fetal and neonatal alloimmune thrombocytopenia Centre de Génétique Médicale UCL
Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion ATXN8, ATXN10, PPP2R2B, TBP Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 10, Spinocerebellar ataxia type 12, Spinocerebellar ataxia type 17 Centrum Medische Genetica - UZ Antwerpen
Spinocerebellar ataxia (type 8, 17) + Dentatorubral pallidoluysian atrophy - repeat expansion ATXN8, TBP, ATN1 Spinocerebellar ataxia (type 8, 17 + ATN1) (5 genes) - VUB Spinocerebellar ataxia type 8, Spinocerebellar ataxia type 17, Dentatorubral pallidoluysian atrophy Centrum Medische Genetica - UZ Brussel VUB
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