Genetic tests

Full name Analytes Gene panels Disease Laboratory
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) MT-TK MERRF Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier) MT-TK MERRF Centrum Medische Genetica - UZ Brussel VUB
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (full sequencing) (2nd tier) MT-TK MERRF Centrum Medische Genetica - UZ Brussel VUB
Hyperekplexia (gene panel-6 genes) Hyperekplexia (6 genes) - IPG Hereditary hyperekplexia Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Hyperekplexia (3 genes) SLC6A5, GLRA1, GLRB Hyperekplexia (3 genes) - ULG Hereditary hyperekplexia Centre de Génétique Humaine - CHU Sart-Tilman
Thyroid hormone receptor resistance (THRB gene) THRB Pituitary resistance to thyroid hormone, Generalized resistance to thyroid hormone Centrum Medische Genetica - UZ Brussel VUB
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
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