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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.
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The molecular genetic testing for the ATXN2 gene analysis is indicated for individuals who exhibit symptoms consistent with spinocerebellar ataxia (SCA). These symptoms may include:
The procedure for ATXN2 gene analysis involves several key steps to ensure accurate detection of abnormal alleles. The process begins with the collection of a biological sample, typically blood or saliva, from the patient. This sample is then sent to a laboratory specializing in genetic testing. In the laboratory, DNA is extracted from the collected sample, and specific regions of the ATXN2 gene are amplified using polymerase chain reaction (PCR) techniques. This amplification allows for the examination of the trinucleotide repeat region of the gene. Following amplification, the laboratory performs sequencing or fragment analysis to determine the number of CAG repeats present in the ATXN2 gene. If the number of repeats exceeds the normal range, indicating an expansion, this result is documented. The findings are then compiled into a report that details the presence of any abnormal alleles, which is subsequently communicated to the healthcare provider for further clinical interpretation and management.
After the ATXN2 gene analysis is completed, the results are typically reviewed by a healthcare provider who specializes in genetic disorders. Depending on the findings, the provider may discuss the implications of the results with the patient, including potential diagnosis, prognosis, and management options for spinocerebellar ataxia. Patients may also be referred to genetic counseling services to help them understand the results and the potential impact on family members, as SCA can have hereditary components. Follow-up care may include monitoring for symptoms, supportive therapies, and interventions aimed at improving quality of life. It is essential for patients to have ongoing discussions with their healthcare team regarding any new symptoms or concerns that may arise following the genetic testing.
| Short Descr | ATXN2 GENE DETC ABNOR ALLELE | Medium Descr | ATXN2 GENE ANALYSIS EVAL DETECT ABNORMAL ALLELES | Long Descr | ATXN2 (ataxin 2) (eg, spinocerebellar ataxia) gene analysis, evaluation to detect abnormal (eg, expanded) alleles | Status Code | Statutory Exclusion (from MPFS, may be paid under other methodologies) | Global Days | XXX - Global Concept Does Not Apply | PC/TC Indicator (26, TC) | 9 - Not Applicable | Multiple Procedures (51) | 9 - Concept does not apply. | Bilateral Surgery (50) | 9 - Concept does not apply. | Physician Supervisions | 09 - Concept does not apply. | Assistant Surgeon (80, 82) | 9 - Concept does not apply. | Co-Surgeons (62) | 9 - Concept does not apply. | Team Surgery (66) | 9 - Concept does not apply. | Diagnostic Imaging Family | 99 - Concept Does Not Apply | CLIA Waived (QW) | No | APC Status Indicator | Service Paid under Fee Schedule or Payment System other than OPPS | Type of Service (TOS) | 5 - Diagnostic Laboratory | Berenson-Eggers TOS (BETOS) | none | MUE | 1 |
| XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure | GA | Waiver of liability statement issued as required by payer policy, individual case | 90 | Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number. | GW | Service not related to the hospice patient's terminal condition | 59 | Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25. | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service |
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| 2019-01-01 | Added | Added |
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