Genetic tests

Full name Analytes Gene panels Disease Laboratory
Male infertility Yq11, CFTR, USP9Y Partial chromosome Y deletion, Congenital bilateral absence of vas deferens Centre de Génétique Médicale UCL
MTHFR c.677C>T et c.1298A>C -drug metabolism - Pharmacogenetics MTHFR Centre de Génétique Médicale UCL
Homocystinuria (hot spot mutation - c.677C>T) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
Homocystinuria (hot spot mutation - c.1298A>C) MTHFR Homocystinuria due to methylene tetrahydrofolate reductase deficiency Centre de Génétique Humaine - CHU Sart-Tilman
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
Rhabdomyosarcoma DICER1, NF1, TP53 Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type 1 / Legius syndrome (2 genes) NF1, SPRED1 Neurofibromatosis type 1, Legius syndrome Centrum Menselijke Erfelijkheid - KUL
Paraganglioma-pheochromocytoma (gene panel) SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1 Paraganglioma-pheochromocytoma (7 genes) - KUL Hereditary pheochromocytoma-paraganglioma Centrum Menselijke Erfelijkheid - KUL
Neurofibromatosis type I NF1 Neurofibromatosis type 1 Centre de Génétique Médicale UCL
Neurofibromatosis type 1 / Legius syndrome NF1, SPRED1 Neurofibromatosis type 1, Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion, 17q11 microdeletion syndrome, Legius syndrome Centrum Medische Genetica - UZ Gent
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