Genetic tests

Full name Analytes Gene panels Disease Laboratory
Dysautonomia, familial (FD) (hot spot mutation - c.2204+6T>C) ELP1 Familial dysautonomia Centrum Medische Genetica - UZ Antwerpen
Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations) ASPA, ELP1, HEXA, FANCC Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA Centrum Medische Genetica - UZ Antwerpen
Blepharophimosis type I /II FOXL2 Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome, Blepharophimosis-epicanthus inversus-ptosis due to copy number variations Centrum Medische Genetica - UZ Gent
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
Usher syndrome (gene panel) CDH23, CLRN1, WHRN, ADGRV1, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A Usher syndrome (10 genes) - UZA Centrum Medische Genetica - UZ Antwerpen
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