Genetic tests

Full name Analytes Gene panels Disease Laboratory
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1) MT-RNR1 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1) MT-RNR1 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure Centrum Medische Genetica - UZ Antwerpen
Nijmegen Breakage Syndrome NBN Nijmegen breakage syndrome Centrum Menselijke Erfelijkheid - KUL
Nijmegen breakage syndrome NBN Nijmegen breakage syndrome Centrum Medische Genetica - UZ Gent
Hereditary cancer (Breast, ovary, colon) (26 genes) BRCA1, BRCA2, BARD1, BRIP1, CDH1, MLH1, MSH2, MSH6, MEN1, PTEN, RAD50, RAD51D, STK11, TP53, CHEK2, MUTYH, PALB2, RAD51C, ATM, EPCAM, BLM, NBN, PMS2, XRCC2, ABRAXAS1, MRE11 Cancer (Breast, ovary, colon,…) (26 genes) - ULG Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 2 to type 5 (5 genes) HAMP, FTH1, SLC40A1, TFR2, HJV Hemochromatosis hereditary (types 2 to 5) (5 genes) - UCL HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis, Hemochromatosis type 4, Hemochromatosis type 5 Centre de Génétique Médicale UCL
Familial Exudative Vitreoretinopathy, autosomal dominant FZD4, TSPAN12, LRP5, NDP Exudative Vitreoretinopathy - UGent Familial exudative vitreoretinopathy Centrum Medische Genetica - UZ Gent
Nanophthalmos MFRP, PRSS56 Nanophthalmos Centrum Medische Genetica - UZ Gent
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