Genetic tests

Full name Analytes Gene panels Disease Laboratory
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
Temple syndrome / Kagami-Ogata Syndrome DLK1, MEG3, RTL1 Temple syndrome due to maternal uniparental disomy of chromosome 14, Temple syndrome due to paternal 14q32.2 hypomethylation, Temple syndrome due to paternal 14q32.2 microdeletion, Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14, Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation, Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion Centre de Génétique Médicale UCL
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
Cardiofaciocutaneous syndrome (5 genes) HRAS, KRAS, BRAF, MAP2K2, MAP2K1 Cardiofaciocutaneous syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Costello Syndrome- Schimmelpenning syndrome HRAS Costello 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
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