Genetic tests

Full name Analytes Gene panels Disease Laboratory
Waardenburg Syndrome types I and III PAX3 Waardenburg syndrome type 1, Waardenburg syndrome type 3 Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
Waardenburg syndrome (gene panel) EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10 Waardenburg syndrome (6 genes) - UZA Waardenburg syndrome type 1, Waardenburg syndrome type 2, Waardenburg syndrome type 3, Waardenburg-Shah syndrome Centrum Medische Genetica - UZ Antwerpen
Test Biochemical Genetics (Diagnosis of aminoacidopathy, organic aciduria and beta-oxydation defects (amino acids and acylcarnitines by MSMS)) SLC25A20 Carnitine-acylcarnitine translocase deficiency Sciensano
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
Myeloid neoplasms with germline predisposition (Hereditary MDS/Acute Leukemia) (gene panel) Hereditary Myelodysplastic /Acute Leukemia Predisposition Syndromes (gene panel) B-cell chronic lymphocytic leukemia, Inherited acute myeloid leukemia, Chronic myeloid leukemia, Atypical chronic myeloid leukemia, Precursor B-cell acute lymphoblastic leukemia, Familial platelet disorder with associated myeloid malignancy, DDX41-related hematologic malignancy predisposition syndrome, Idiopathic aplastic anemia Centre de Génétique Humaine - CHU Sart-Tilman
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