CDKN1B GENE ANALYSIS IN PATIENTS WITH MEN4
Multiple Endocrine Neoplasia type 4 is an autosomal dominant disorder characterized by the presence of parathyroid and pituitary tumours in addition to other malignancies. The full spectrum of features associated with MEN4 has not been clearly defined.
Variants in the CDKN1B gene have been identified in patients with MEN4 (Marinoni and Pellegata 2011 Neuroendocrinol 93:19-28). CDKN1B analysis of the coding region and the splice sites by sequencing is available for familial cases where no variant has been detected in the MEN1 gene.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) schemes.
NHSE test directory code: R217 Multiple endocrine neoplasia type 1. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.