Genetic tests

Full name Analytes Gene panels Disease Laboratory
Cardiofaciocutaneous syndrome (5 genes) HRAS, KRAS, BRAF, MAP2K2, MAP2K1 Cardiofaciocutaneous syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Vascular malformations (somatic) AKT1, AKT2, AKT3, ALK, BRAF, GNA11, GNA14, GNAQ, HRAS, IDH1, IDH2, KRAS, NRAS, PIK3CA, PIK3R1, PIK3R2, PTEN, TEK, MAP3K3, MAP2K1 Vascular malformations (somatic) (19 genes) - UCL Capillary malformation-arteriovenous malformation, CLOVES syndrome, Maffucci syndrome, Proteus syndrome Centre de Génétique Médicale UCL
Hypermethylation promoter MLH1 and p.V600 of BRAF1 MLH1, BRAF Lynch syndrome Centrum Menselijke Erfelijkheid - KUL
Lynch syndrome - MLH1 promoter hypermethylation and BRAF V600E mutation MLH1, BRAF Selection of therapeutic option in colorectal cancer Centre de Génétique Humaine - CHU Sart-Tilman
Vitelliform Macular Dystrophy BEST1, PRPH2, IMPG1, IMPG2 Best vitelliform macular dystrophy, Adult-onset foveomacular vitelliform dystrophy Centrum Medische Genetica - UZ Gent
Maternally-inherited diabetes and deafness / Mitochondrial myopathy with reversible cytochrome C oxidase deficiency / mitochondrial tRNA glutamic acid MT-TE Maternally-inherited diabetes and deafness, MELAS Centrum Medische Genetica - UZ Brussel VUB
Adenomatous polyposis, familial (gene panel) APC, MUTYH, BMPR1A, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, NTHL1, PMS2, POLD1, POLE, PTEN, STK11, CDH1, SMAD4, TP53 Familial adenomatous polyposis, MUTYH-related attenuated familial adenomatous polyposis, Hereditary nonpolyposis colorectal cancer, Lynch syndrome Centre de Génétique Médicale UCL
Breast and Ovarian Cancer, HBOC, Familial (17 genes) BRCA1, BRCA2, TP53, PALB2, CHEK2, ATM, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6, BARD1, CDH1, EPCAM, PMS2, PTEN Hereditary breast and/or ovarian cancer syndrome Centre de Génétique Médicale UCL
Hereditary nonpolyposis colorectal cancer (gene panel) MLH1, MSH2, MSH6, PMS2, EPCAM, APC, BMPR1A, CDH1, GREM1, MSH3, MUTYH, NTHL1, POLD1, POLE, PTEN, STK11, SMAD4, TP53 Hereditary nonpolyposis colorectal cancer, Lynch syndrome, Constitutional mismatch repair deficiency syndrome Centre de Génétique Médicale UCL
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
Microsatellites instability analysis- MMR genes MLH1, MSH2, MSH6, PMS2 Lynch syndrome, Constitutional mismatch repair deficiency syndrome Centre de Génétique Humaine - CHU Sart-Tilman