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Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
SDHD
SDHB
SDHC
Paragangliomas and pheochromocytomas are rare tumors of neural crest origin that can be either benign or malignant. When such tumors present in the head and neck region they are known as head and neck paragangliomas (HNP). Below the neck, they are referred to as extraadrenal paragangliomas. If they arise within the adrenal gland, they are designated adrenal paragangliomas or pheochromocytomas. In individuals with HNP, the most common initial symptoms include a palpable neck mass, tinnitus and cranial nerve palsies. Patients with paragangliomas below the neck, which can be hormonally active, may present with one or more symptoms of catecholamine excess, such as headache, labile hypertension, palpitations, perspirations and pallor.
Paragangliomas and pheochromocytomas can be either sporadic or hereditary. In the hereditary form, tumors tend to be multiple and occur at a younger age compared to the sporadic form. Genetic syndromes associated with an increased risk for pheochromocytoma include VHL, MEN2, and NF1. In addition, Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC) is an autosomal dominant disorder caused by a germline mutation in either the SDHD gene, SDHB gene, or less frequently, the SDHC gene. Identification of a mutation in SDHD, SDHB or SDHC allows for screening and early detection of tumors for the patient and permits targeted testing of at-risk family members, accurate genetic counseling and prenatal diagnosis.
GeneDx provides mutation analysis of the SDHD, SDHB and SDHC genes for the diagnosis of PGL/PCC. Using genomic DNA, we sequence and analyze the coding regions and splice sites of SDHB, SDHD and/or SDHC in the order requested by the physician as dictated by the clinical phenotype and family history. In addition, if no mutation is found by sequencing, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is available to evaluate for a deletion or duplication of one or more exons of this gene.
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