Applications

1152 – Genetic testing for hereditary mutations in the RET gene

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Complete
  • Type New application
  • Pre-PASC consultation -
  • Pre-MSAC consultation -
  • Outcome Supported

Application details

Reason for application

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Service or technology in this application

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.

Medical condition this application addresses

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.

Application documents

PICO confirmation

Assessment report

Public summary document

Predicted versus actual

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Meetings to consider this application

  • PASC meeting: 
    • 14 to 15 September 2011
    • 1 to 2 December 2011
  • ESC meeting: 
    • 13 to 14 June 2013
  • MSAC meeting:
    • 1 August 2013
    • 28-29 March 2018