1152 - Genetic testing for hereditary mutations in the RET gene

Page last updated: 13 July 2016

Application Detail



Description of Medical Service

Genetic testing for hereditary mutations in the RET gene for (i) patients with symptoms of multiple endocrine neoplasia type II (MEN2) and (ii) unaffected relatives of a patient with a documented RET mutation to determine the risk of disease.

Description of Medical Condition

Mutations in the RET gene are associated with MEN2A and MEN2B and familial medullary thyroid cancer, and the seemingly unrelated syndrome of congenital absence of the enteric ganglia (Hirschsprung disease).

MEN2 is a group of disorders, associated with tumours of the endocrine system (generally the thyroid, parathyroid and adrenals). Nearly all patients develop a medullary thyroid carcinoma, and half of patients with MEN2A or MEN2B develop phaeochromocytomas. Patients with MEN2A may develop hyperparathyroidism, whereas patients with MEN2B will show other abnormalities such as ganglioneuromas, medullated corneal nerves, and marfanoid body habitus.

Reason for Application


Medical Service Type


Previous Application Number

Not Applicable

Associated Documentation

Application Form


PICO Confirmation

Final Protocol (PDF 3048 KB)
Final Protocol (Word 2060 KB)

Assessment Report

Contracted Assessment Report (PDF 1943 KB)
Contracted Assessment Report (Word 3929 KB)

Public Summary Document

Public Summary Document - August 2013 (PDF 156 KB)
Public Summary Document - August 2013 (Word 106 KB)

Meetings for this Application


14 to 15 September 2011
1 to 2 December 2011


13 to 14 June 2013


1 August 2013