Genetic tests

Full name Analytes Gene panels Disease Laboratory
Bile Acid Synthesis Congenital Defect (gene panel) AKR1D1, AMACR, CYP7B1, HSD3B7, CYP27A1 Bile Acid Synthesis Congenital Defect (5 genes) - UCL Congenital bile acid synthesis defect type 2, Congenital bile acid synthesis defect type 4, Cerebrotendinous xanthomatosis, Congenital bile acid synthesis defect type 3, Congenital bile acid synthesis defect type 1 Centre de Génétique Médicale UCL
Li-Fraumeni syndrome TP53 Li-Fraumeni syndrome Centrum Menselijke Erfelijkheid - KUL
Li-Fraumeni Syndrome TP53 Li-Fraumeni syndrome Centre de Génétique Médicale UCL
Li-Fraumeni Syndrome TP53 Li-Fraumeni syndrome Centrum Medische Genetica - UZ Gent
Breast cancer, hereditary / Li-Fraumeni syndrome (Hot spot mutation - 1100delC) CHEK2 Li-Fraumeni syndrome, Hereditary breast and/or ovarian cancer syndrome Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Li-Fraumeni Syndrome (TP53 gene) TP53 Li-Fraumeni syndrome Centre de Génétique Humaine - CHU Sart-Tilman
Paraganglioma-pheochromocytoma (gene panel) SDHA, SDHB, SDHC, SDHD, SDHAF2, RET, VHL, NF1 Paraganglioma-pheochromocytoma (7 genes) - KUL Hereditary pheochromocytoma-paraganglioma Centrum Menselijke Erfelijkheid - KUL
Pheochromocytoma - paraganglioma syndrome (gene panel) SDHB, SDHC, SDHD, SDHA, MAX, TMEM127, SDHAF2, VHL, RET, SUCLG2 Pheochromocytoma - paraganglioma syndrome - UGent Hereditary pheochromocytoma-paraganglioma Centrum Medische Genetica - UZ Gent
Paraganglioma-pheochromocytoma (6 genes) - ULG RET, VHL, SDHA, SDHB, SDHC, SDHD Paraganglioma-pheochromocytoma (6 genes) - ULG Hereditary pheochromocytoma-paraganglioma, Von Hippel-Lindau disease, Multiple endocrine neoplasia type 2B, Multiple endocrine neoplasia type 2A Centre de Génétique Humaine - CHU Sart-Tilman
Porencephaly / Hemorrhagic stroke / Cerebral small vessel disease / Idiopathic cerebral white matter lesions / HANAC / Isolated retinal arteriolar tortuosity COL4A1, COL4A2 Familial porencephaly, HANAC syndrome, Retinal arterial tortuosity Centrum Medische Genetica - UZ Gent
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