Genetic tests

Full name Analytes Gene panels Disease Laboratory
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6) MT-ND1, MT-ND4, MT-ND6 Leber hereditary optic neuropathy Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6) MT-ND1, MT-ND4, MT-ND6 LHON (3 genes) - VUB Leber hereditary optic neuropathy Centrum Medische Genetica - UZ Brussel VUB
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
Breast cancer, hereditary / Li-Fraumeni syndrome (Hot spot mutation - 1100delC) CHEK2 Li-Fraumeni syndrome, Hereditary breast and/or ovarian cancer syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Breast and Ovarian Cancer, hereditary, HBOC, Familial (gene panel) BRCA1, BRCA2, PALB2, TP53, CHEK2, ATM, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6, BARD1 Breast/ ovarian cancer (12 genes) - UZA Hereditary breast cancer, Hereditary breast and/or ovarian cancer syndrome Centrum Medische Genetica - UZ Antwerpen
Breast and Ovarian cancer, HBOC, familial (gene panel - 17 genes) BRCA1, BRCA2, TP53, PALB2, CHEK2, BRIP1, RAD51C, RAD51D, MLH1, MSH2, MSH6, ATM Breast/Ovarian cancer (17 genes) - ULB Hereditary breast cancer Centre de Génétique Humaine - Erasme ULB
Hereditary Breast and Ovarian Cancer, HBOC (13 genes) BRCA1, BRCA2, TP53, PALB2, CHEK2, MLH1, MSH2, MSH6, BRIP1, BARD1, RAD51C, RAD51D, ATM Breast cancer, hereditary (13 genes) - ULG Hereditary breast cancer, Hereditary breast and/or ovarian cancer syndrome Centre de Génétique Humaine - CHU Sart-Tilman
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 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Médicale UCL
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp in HFE gene) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Gent
Hemochromatosis hereditary type 1 (hot spot mutations p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Antwerpen
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Humaine - Erasme ULB
Hemochromatosis hereditary type 1 (HFE gene hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Medische Genetica - UZ Brussel VUB
Hemochromatosis hereditary type 1 (HFE gene - hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centre de Génétique Humaine - CHU Sart-Tilman
Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp) HFE Symptomatic form of hemochromatosis type 1, Hemochromatosis type 1 (NON RARE IN EUROPE) Centrum Menselijke Erfelijkheid - KUL
MODY : Maturity onset Diabete of the Young (gene panel) ABCC8, GCK, HNF1A, HNF4A, HNF1B, INS, KCNJ11 MODY - Maturity onset Diabete of the Young (21 genes) - IPG MODY Centre de Génétique-Institut de Pathologie et de Génétique (IPG)