Genetic tests

Full name Analytes Gene panels Disease Laboratory
Fragile X syndrome/POF/FXTAS - FMR1 gene CGG repeat expansion FMR1 Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Symptomatic form of fragile X syndrome in female carriers, Premature Ovarian Failure Centrum Medische Genetica - UZ Brussel VUB
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centre de Génétique Humaine - CHU Sart-Tilman
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centrum Medische Genetica - UZ Gent
Abacavir toxicity (HLA-B*57:01 genotyping) - Pharmacogenetics HLA-B Abacavir toxicity Centrum Medische Genetica - UZ Brussel VUB
Adrenogenital syndrome CYP21A2 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form, Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form Centrum Medische Genetica - UZ Antwerpen
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
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