C9orf72 Repeat Expansion

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Autosomal dominant hexanucleotide repeat expansions in the C9orf72 gene have been associated frontotemporal dementia and/or amyotrophic lateral sclerosis (FTD; ALS; FTDALS1). The penetrance of FTD/ALS is associated with the length of hexanucleotide repeats. The contribution of missense variants in the C9orf72 gene is unclear. 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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2 weeks
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C9orf72 ( 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)
Repeat expansion analysis is done using repeat-primed PCR (rpPCR). 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. 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 81479x2

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.