Genetic tests

Full name Analytes Gene panels Disease Laboratory
Treacher Collins (gene panel) POLR1C, POLR1D, TCOF1 Treacher Collins (3 genes) - UZA Treacher-Collins syndrome Centrum Medische Genetica - UZ Antwerpen
Small cell carcinoma of the ovary SMARCA4 Small cell carcinoma of the ovary Centrum Medische Genetica - UZ Gent
Rare non-epithelial ovarian neoplasms (2 genes) DICER1, SMARCA4 Small cell carcinoma of the ovary, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary Centrum Menselijke Erfelijkheid - KUL
Rhabdoid Tumor Predisposition Syndrome (SMARCA4; SMARCB1 genes) SMARCB1, SMARCA4 Rhabdoid tumor predisposition syndrome Centrum Menselijke Erfelijkheid - KUL
Vitelliform Macular Dystrophy BEST1, PRPH2, IMPG1, IMPG2 Best vitelliform macular dystrophy, Adult-onset foveomacular vitelliform dystrophy Centrum Medische Genetica - UZ Gent
Congenital hemangioma (2 genes) GNAQ, GNA11 Familial multiple nevi flammei, Sturge-Weber syndrome, Uveal melanoma Centrum Menselijke Erfelijkheid - KUL
Hypocalciuric hypercalcemia, familial type II GNA11 Familial hypocalciuric hypercalcemia type 2 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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