Genetic test for fragile X syndrome

Medical Services Advisory Committee
Record ID 32002000884
English
Authors' objectives:

This report reviews the literature on genetic testing for fragile X syndrome.

Authors' recommendations: MSAC recommended that on the strength of the evidence pertaining to genetic test for fragile X syndrome public funding should be supported for the use of: Nucleic 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.
Authors' methods: Systematic review
Details
Project Status: Completed
Year Published: 2002
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Australia
MeSH Terms
  • Costs and Cost Analysis
  • Fragile X Syndrome
Contact
Organisation Name: Medical Services Advisory Committee
Contact Address: MSAC (MDP 107), GPO Box 9848, Canberra, ACT 2601, Australia. Tel: +61 2 6289 6811; Fax: +61 2 6289 8799.
Contact Name: msac.secretariat@health.gov.au
Contact Email: msac.secretariat@health.gov.au
Copyright: Medical Services Advisory Committee (MSAC)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.