Genetic tests

Full name Analytes Gene panels Disease Laboratory
Buschke-Ollendorff / Melorheostosis with Osteopoikilosis LEMD3 Buschke-Ollendorff syndrome, Melorheostosis with osteopoikilosis, Isolated osteopoikilosis Centrum Medische Genetica - UZ Gent
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
Bronchiectasis (4 genes) CFTR, SCNN1A, SCNN1B, SCNN1G Bronchiectasis (4 genes) - UCL Idiopathic bronchiectasis Centre de Génétique Médicale UCL
Bronchiectasies with or without elevated sweat chloride panel (5 genes) CFTR, SCNN1A, SCNN1B, SCNN1G Pulmonary/Bronchiectasies (5 genes) - IPG Idiopathic bronchiectasis, Cystic fibrosis Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hyperekplexia (3 genes) SLC6A5, GLRA1, GLRB Hyperekplexia (3 genes) - ULG Hereditary hyperekplexia Centre de Génétique Humaine - CHU Sart-Tilman
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