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PHAEOCHROMOCYTOMA & PARAGANGLIOMA

Clinical Genetics Endocrinology Genomics


VARIANT ANALYSIS OF THE FH, MAX, MEN1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127 AND VHL GENES

Phaeochromocytomas are neural crest-derived tumours of the adrenal medulla, which result in the hypersecretion of catecholamines. Extra-adrenal phaeochromocytomas are referred to as paragangliomas. These are histologically identical but occur outside of the adrenal medulla. Sympathetic paragangliomas are mainly located in the chest, abdomen and pelvis, and commonly secrete catecholamines whereas parasympathetic paragangliomas are typically located within the head and neck and usually do not secrete catecholamines.

Approximately 30% of phaeochromocytomas and paragangliomas are thought to be caused by germline variants in one of several genes: FH, MAX, MEN1, RET, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127 or VHL (Jafri and Maher Eur J Endocrinol 2012 Feb; 166(2):151-8Gimenez-Roqueplo et al. 2006 Clin Endocrinol 65, 699-705; Comino-Mendez et al. 2011 Nat Genet 43, 663-669; Yao et al. 2010 JAMA 304, 2611-2619).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.

NHSE test directory code: R223 Inherited phaeochromocytoma and paraganglioma. Testing criteria can be found here.

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