SDHB, SDHD and SDHC gene analysis in PGL/PCC syndrome

GeneDx offers molecular testing for a large group of cancer predisposition syndromes, including Multiple Endocrine Neoplasia type 2 (RET gene) and Von Hippel-Lindau Disease (VHL gene). Patients with either disorder may develop pheochromocytoma and/or paraganglioma tumors, which are also the hallmark of Hereditary Paraganglioma and Pheochromocytoma (PGL/PCC) Syndrome. GeneDx now also provides mutation analysis of the three causative genes for PGL/PCC Syndrome: SDHB, SDHC and SDHC. Genetic testing of these 3 genes will allow differentiation of PGL/PCC from MEN2 and VHL, and permit the development of a tumor screening protocol, early intervention, family testing, genetic counseling and follow up.