CPT® Code 81179

The CPT® Code 81179 pertains to the molecular genetic testing specifically aimed at analyzing the ATXN2 gene, which is associated with spinocerebellar ataxia (SCA). This testing is crucial for identifying mutations within the ataxin genes, particularly the ATXN2 gene, which plays a significant role in the development of SCA, a progressive neurodegenerative disorder affecting the cerebellum and spinal cord. The symptoms of SCA can vary widely based on which gene is mutated, but they often include ataxia, characterized by uncoordinated movements, muscle stiffness, tremors, and difficulties with speech and swallowing. Additional symptoms may involve problems with coordination, involuntary eye movements, vision issues, sleep disturbances, and cognitive challenges such as learning and memory difficulties. The ATXN2 gene is located on chromosome 12 at the specific position 12q24.12 and encodes the ataxin 2 protein, which is involved in cellular processes, particularly those related to the endoplasmic reticulum. A notable feature of the ATXN2 gene is the presence of a trinucleotide repeat sequence (CAG), which typically consists of about 22 repeats. However, in cases of SCA2, this repeat can expand to 32 or more, leading to the manifestation of the disease. The code 81179 is utilized to report the analysis of the ATXN2 gene for the purpose of detecting these abnormal, expanded alleles.