How To Use CPT Code 81285
CPT 81285 describes the genetic analysis procedure for characterizing changes in the frataxin gene (FXN), specifically to identify nucleotide repeats following the detection of an expanded allele size. This article will cover the description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, similar codes and billing examples.
1. What is CPT Code 81285?
CPT 81285 can be used to describe the genetic analysis procedure for characterizing changes in the frataxin gene (FXN). This code is specifically used to identify nucleotide repeats after detecting an expanded allele size. The test is typically ordered to aid in the diagnosis of Friedreich ataxia (FA), a heritable disease characterized by muscle contraction, loss of control of body movements, speech articulation difficulty, sensory loss, and other symptoms. It can also be used to determine carrier status for certain conditions.
2. Official Description
The official description of CPT code 81285 is: ‘FXN (frataxin) (eg, Friedreich ataxia) gene analysis; characterization of alleles (eg, expanded size)’
3. Procedure
- The lab analyst performs the technical lab test to characterize changes in the frataxin gene (FXN), typically to identify nucleotide repeats following detection of an expanded allele size.
- If the 81284 test detects abnormal alleles in the specimen, the lab analyst may perform the 81285 assay as a follow-up test to characterize the abnormal alleles.
- The lab analyst may use methods such as Southern blot or methylation-specific multiplex ligation dependent probe amplification (MLPA) to characterize the nucleotide repeats and methylation status.
