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ISOLATED PITUITARY ADENOMA

Clinical Genetics Endocrinology Genomics


AIP GENE ANALYSIS IN FAMILIAL ISOLATED PITUITARY ADENOMA

Familial Isolated Pituitary Adenoma (FIPA) is an autosomal dominant disease with incomplete penetrance, characterised by early-onset disease, often aggressive tumour growth and a predominance of somatotroph and lactotroph adenomas. Variants in the AIP gene have been reported in approximately 20% of FIPA families (Beckers and Daly 2007 Eur J Endocrinol. 157:371-82).

Duplication of the GPR101 gene has been shown to cause paediatric-onset X-linked acrogigantism (Trivellin et al 2014 N Engl J Med 371:2363-2374).

Uncertainty of measurement for the GPR101 ddPCR assay is available upon application to the laboratory.

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

Useful links: AMEND is a registered charity offering support for patients with MEN types 1 and 2, and associated sporadic growths. Click here to view their website.

 

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