Genetic tests

Full name Analytes Gene panels Disease Laboratory
Alpha-1-antitrypsin deficiency (2 hot sopt mutations / p.Glu366Lys; p.Glu288Val ) SERPINA1 Alpha-1-antitrypsin deficiency Centrum Menselijke Erfelijkheid - KUL
Alpha-1-antitrypsin deficiency (hot spot mutations - p.Glu342Lys (allele PI-Z), p. Glu264Val (allele PI-S)) SERPINA1 Alpha-1-antitrypsin deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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 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
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
Deficiency of Vitamin K-Dependent Clotting Factors VKORC1, GGCX Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
Pseudoxanthoma Elasticum with clotting deficiency GGCX Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Hereditary combined deficiency of vitamin K-dependent clotting factors Centrum Medische Genetica - UZ Gent
Central Precocious Puberty (5 genes) MKRN3, KISS1, KISS1R, PROKR2, DLK1 Central Precocious Puberty (5 genes) - ULG Idiopathic central precocious puberty Centre de Génétique Humaine - CHU Sart-Tilman
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