FMR1 Repeat Expansion Analysis

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Expansion of trinucleotide repeats in the 5-prime untranslated region (UTR) of the FMR1 gene is associated with Fragile X syndrome, Fragile X tremor/ataxia syndrome (FXTAS), and primary ovarian insufficiency (POI). The risk and penetrance of the conditions is associated with the length of trinucleotide repeats. The scope of this assay is limited to repeat expansion analysis of this gene and may not reveal the exact number of repeats present in large expansions.

Test Description

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  • Rush / STAT
  • MCC
2 weeks
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FMR1 ( 1 gene )
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Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All repeat expansion assays have limitations. This analysis is performed by repeat-primed PCR (rpPCR) and amplicon length analysis. The scope of this assay is limited to repeat expansion analysis of the gene. This repeat expansion analysis may not elicit the precise number of repeats present in large expansions. Gene sequencing and deletion/duplication analysis are not included in this assay, but can be ordered separately. This analysis does not include methylation studies.

CPT Code 81224

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.