Genetic tests

Full name Analytes Gene panels Disease Laboratory
Primary lymphedema / fetal hydrops (gene panel) Lymphedema / fetal hydrops (27 genes) - UCL, Vascular malformations (germline) (38 genes) - UCL Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, Cardiofaciocutaneous syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Noonan syndrome, Oculodentodigital dysplasia, Microcephaly-lymphedema-chorioretinopathy syndrome, Milroy disease, Lymphedema-distichiasis syndrome, Lymphedema-posterior choanal atresia syndrome, Hennekam syndrome, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, Lymphangioleiomyomatosis Centre de Génétique Médicale UCL
Cardiofaciocutaneous syndrome (5 genes) HRAS, KRAS, BRAF, MAP2K2, MAP2K1 Cardiofaciocutaneous syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Autosomal dominant non-syndromic sensorineural deafness type DFNA9 (COCH partial sequencing) COCH Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Deafness, autosomal dominant 6/14 / Wolfram syndrome WFS1 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA, Wolfram syndrome Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5) COCH Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Centrum Medische Genetica - UZ Antwerpen
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