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.