Androgen receptor (AR) gene CAG triplet repeat test
- 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.: GTR000299395.3
- Last updated: 2021-01-29
- Annual Review past due read more
- Test version history
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 Kennedy disease
Offered by Neurogenetics Department
Methodology
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Molecular Genetics
- TTargeted variant analysis
- Trinucleotide repeat by PCR or Southern Blot
- Applied Biosystems 3130xl genetic analyser
Test development
HelpHow the test was developed (e.g. Laboratory Developed Test (LDT), FDA reviewed, externally manufactured kit, modified FDA-reviewed test, or combination). Intended to help differentiate certification requirements between the test types. Reflex testing not included here.Test developed by laboratory (no manufacturer test name)
Test procedure
HelpSummary of the test methodology and/ or description of the specific steps for each method used in this assay.FAM labelled PCR and Applied Biosystems 3031xl automated fragment analysis of the CAG repeat expansion in the first exon of the androgen receptor
(AR) gene on chromosome Xq11.2-q12. The normal range for the CAG repeat alleles is 11 to 33 repeats. Pathological alleles contain 38 to 62 CAG
repeats.
- Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. - PubMed ID: 2062380
different method or new sample
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