Genetic tests

Full name Analytes Gene panels Disease Laboratory
Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg) FGFR1 Pfeiffer syndrome type 1 Centrum Medische Genetica - UZ Antwerpen
Kallmann syndrome / Hypogonadotropic Hypogonadism (FGFR1 gene) FGFR1 Kallmann syndrome, Normosmic congenital hypogonadotropic hypogonadism 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
DICER1 Syndrome DICER1 Maligant granulosa cell tumor of the ovary Centrum Menselijke Erfelijkheid - KUL
Rhabdomyosarcoma DICER1, NF1, TP53 Centrum Menselijke Erfelijkheid - KUL
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
Wilms tumor (DICER1; WT1 genes) WT1, DICER1 Wilms' tumor (2 genes) - KUL Centrum Menselijke Erfelijkheid - KUL
Dicer1 tumor predisposition syndrome DICER1 Familial multinodular goiter, DICER1 tumor-predisposition syndrome, Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome, Malignant Sertoli-Leydig cell tumor of the ovary, Maligant granulosa cell tumor of the ovary, Gynandroblastoma Centrum Medische Genetica - UZ Gent
Obesity (gene panel) ADCY3, BDNF, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, SIM1, UCP3 Obesitas (genepanel) - UZA Centrum Medische Genetica - UZ Antwerpen
Obesitas, early onset (gene panel) MC4R, MC3R, LEP, LEPR, PCSK1, POMC, SIM1, NTRK2 Obesitas, early onset (8 genes) - VUB Centrum Medische Genetica - UZ Brussel VUB
Obesitas, Monogenic early onset MC4R Obesity due to melanocortin 4 receptor deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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