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Application 1035

Genetic test for Fragile X syndrome

Application No.1035
Application NameGenetic test for Fragile X syndrome
Advisory PanelsEmer Prof Peter Phelan
(Chair and MSAC member)
Dr Ross Brookwell
(Pathology Services Table Committee)
Dr Michael Buckley
(Pathology Services Table Committee)
Dr Jonathan Cohen
(Royal Australian College of General Practitioners nominee)
Associate Professor Eric Haan
(co-opted member)
Ms Emily Lancsar
(Centre for Health Economics, Research and Evaluation nominee)
Mrs Denise Birney
(Consumers' Health Forum of Australia nominee)
Date Received by MSAC Secretariat10 May 2000
Stage 1 - EligibilityEligible
Stage 2 - AssessmentCompleted
Stage 3 - Formulation of Advice to the MinisterThis assessment was considered by the MSAC at the 6 March 2002 meeting.

The MSAC recommended that on the strength of the evidence pertaining to genetic test for Fragile X syndrome using DNA analysis, public funding should be supported for the use of:

- nucleaic acid amplification (NAA) in those with specific clinical features of Fragile X (A) syndrome, including intellectual disabilities, and

- in first and second degree relatives of individuals with the Fragile X (A) mutation and Southern Blot where the results of NAA testing are inconclusive.
Stage 4 - DecisionEndorsed by the Minister for Health and Ageing 20 August 2002
Stage 5 - Implementation