Australian Government - Department of Health

Medical Services Advisory Committee (MSAC)

1152 - Genetic testing for hereditary mutations in the RET gene

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Application Number1152
Application NameGenetic testing for hereditary mutations in the RET gene
Description of Medical ServiceGenetic 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 ConditionMutations 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.
Consultation ProtocolConsultation Protocol released for comment 7 October 2011 and closed for comment 4 November 2011
Consultation Protocol (PDF 1044 KB)
Consultation Protocol (Word 2931 KB)
Final ProtocolFinal Protocol (PDF 855 KB)
Final Protocol (Word 2470 KB)
ReportsContracted Assessment Report (PDF 1943 KB)
Contracted Assessment Report (Word 3929 KB)
MSAC OutcomesPublic Summary Document - August 2013 (PDF 156 KB)
Public Summary Document - August 2013 (Word 106 KB)

Meetings for this Application

Meeting Type:Date:
PASC14 and 15 September 2011
1 and 2 December 2011
ESC 13 and 14 June 2013
MSAC 1 August 2013

Page currency, Latest update: 27 July, 2015