2025 CPT code 81180
(Active) Effective Date: N/A Pathology and Laboratory Procedures - Molecular Pathology Procedures Feed
ATXN3 (ataxin 3) (eg, spinocerebellar ataxia, Machado-Joseph disease) gene analysis, evaluation to detect abnormal (eg, expanded) alleles
Modifier 26 can be appended if only the professional component (interpretation and report) is performed by the physician.
Medical necessity for this test is established when there is clinical suspicion of SCA3 or a need to determine carrier status in individuals with a family history of the condition.
The laboratory analyst performs all technical steps involved in this procedure, including nucleic acid extraction, amplification, and detection.
In simple words: This test analyzes the ATXN3 gene for abnormalities, helping diagnose a condition called spinocerebellar ataxia 3 or determine if someone carries the gene for it.
This code represents a molecular pathology procedure for the analysis of the ATXN3 gene to detect abnormal alleles, primarily expanded alleles. These expanded alleles typically consist of an enlarged gene segment with an excessive number of CAG nucleotide sequence repeats. The test aids in diagnosing spinocerebellar ataxia 3 (SCA3), also known as Machado-Joseph disease.It can also help determine carrier status for the condition.
Example 1: A patient presents with symptoms of ataxia, including difficulty with coordination and balance. This test is ordered to determine if SCA3 is the underlying cause., An individual with a family history of SCA3 undergoes testing to determine their carrier status., A patient with confirmed SCA3 undergoes testing to determine the size of the CAG repeat expansion, which correlates with disease severity and prognosis.
Documentation should include relevant clinical findings, family history of ataxia, and the reason for testing.
- Specialties:Genetics, Neurology
- Place of Service:Independent Laboratory, Hospital Outpatient