Genetic tests

Full name Analytes Gene panels Disease Laboratory
Hepatorenal disorders (gene panel) BCS1L, CC2D2A, DCDC2, EHHADH, HNF1B, INVS, MKS1, NPHP1, NPHP3, NPHP4, PKHD1, POLG, TMEM216 Hepatorenal disorders (13 genes) - UCL GRACILE syndrome, Mitochondrial DNA-associated Leigh syndrome, Isolated complex III deficiency, Joubert syndrome, Meckel syndrome, Isolated neonatal sclerosing cholangitis, Primary Fanconi renotubular syndrome, HNF1B-related autosomal dominant tubulointerstitial kidney disease, Infantile nephronophthisis, Bardet-Biedl syndrome, Senior-Loken syndrome, Autosomal recessive polycystic kidney disease Centre de Génétique Médicale UCL
Renal carcinoma (4 genes) MET, FH, FLCN, VHL Renal carcinoma (4 genes) - UCL Clear cell renal carcinoma Centre de Génétique Médicale UCL
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
Hemochromatosis, juvenile (HJV and HAMP genes) HAMP HJV or HAMP-related hemochromatosis 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