Fragile X-associated tremor/ataxia syndrome
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000558852.1
- Last updated: 2021-12-28
- Annual Review past due read more
- Test version history
- 558852.1, last updated: 2021-12-28
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Fragile X-associated tremor/ataxia syndrome
Offered by Molecular Genetics Laboratory
- ACMG, 2021Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
- EMQN, 2015EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
- EFNS/ENS, 2014EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
- ACMG, 2013ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
- NSGC, 2012Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.
- EFNS, 2010EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
- ACMG, 2008Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines
- ACMG, 2005Fragile X syndrome: Diagnostic and carrier testing
- ACMG, 2001Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics (See 2021 Update)
- EuroGenetest, 2011Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.
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