CPT® Code 81182

ATXN8OS (ATXN8 opposite strand [non-protein coding]) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles

Molecular genetic testing is a critical procedure used to identify mutations in various ataxin (ATXN) genes that are linked to spinocerebellar ataxia (SCA), a progressive degenerative disorder affecting the cerebellum and spinal cord. This condition manifests through a range of symptoms that can differ based on which specific gene is mutated. Common symptoms include uncoordinated gait, muscle stiffness or spasms, tremors, and difficulties with speech and swallowing. Patients may also experience problems with hand-eye coordination, involuntary eye movements, vision issues, sleep disturbances, and challenges with learning, information processing, and memory retention. The ATXN8OS gene, which is the focus of this analysis, is located on the long (q) arm of chromosome 13 at position 21.33 (13q21.33). It functions as an anti-sense transcription of the KLHL1 gene and contains a specific DNA allele characterized by a trinucleotide repeat pattern of the amino acids TAC/TGC. This pattern is incorporated into the ATXN8 gene but is not present in the KLHL1 gene. The CPT® Code 81182 is utilized to report the analysis of the ATXN8OS gene, specifically for the evaluation and detection of abnormal (expanded) alleles associated with spinocerebellar ataxia.