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Molecular genetic testing is a critical procedure used to identify mutations in various ataxin (ATXN) genes that are linked to spinocerebellar ataxia (SCA), a slowly 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 associated with SCA include uncoordinated gait, known as ataxia, muscle stiffness or spasms, tremors, and difficulties with speech (dysarthria) and swallowing (dysphagia). Patients may also experience challenges with hand-eye coordination, involuntary eye movements (nystagmus), vision problems, sleep disturbances, and cognitive difficulties such as issues with learning, processing information, and memory retention. The ATXN7 gene, which is the focus of this analysis, is situated on the short (p) arm of chromosome 3 at position 14.1 (3p14.1). This gene contains a DNA allele characterized by a trinucleotide repeat sequence of three amino acids: cytosine-adenine-guanine (CAG). Typically, this repeat occurs between 4 to 35 times; however, in the case of spinocerebellar ataxia type 7 (SCA7), the allele can expand to between 37 and 306 repeats. Notably, SCA7 presents unique symptoms, including retinal degeneration and pigmentary macular dystrophy. The CPT® Code 81181 is utilized to report the ATXN7 (ataxin 7) gene analysis, specifically for the evaluation and detection of these abnormal (expanded) alleles.
© Copyright 2025 Coding Ahead. All rights reserved.
The ATXN7 (ataxin 7) gene analysis is indicated for the evaluation of patients who exhibit symptoms consistent with spinocerebellar ataxia (SCA). These symptoms may include:
The procedure for ATXN7 (ataxin 7) gene analysis involves several key steps to ensure accurate detection of abnormal alleles. The first step is the collection of a biological sample, typically blood or saliva, from the patient. This sample contains the DNA necessary for analysis. Following collection, the DNA is extracted and purified to isolate the genetic material from other cellular components. Next, the specific regions of the ATXN7 gene that contain the CAG repeat sequence are amplified using polymerase chain reaction (PCR) techniques. This amplification process allows for the generation of sufficient quantities of the target DNA for further analysis. Once amplified, the DNA is subjected to sequencing or fragment analysis to determine the number of CAG repeats present in the allele. The results of this analysis will indicate whether the allele falls within the normal range (4-35 repeats) or if it is expanded (37-306 repeats), which is characteristic of SCA7. The findings are then compiled into a report that details the presence of any abnormal alleles, which can assist healthcare providers in diagnosing and managing the patient's condition.
After the ATXN7 gene analysis is completed, the patient may receive counseling regarding the results, especially if an abnormal allele is detected. This counseling can include discussions about the implications of the findings, potential symptoms to monitor, and available treatment options. Additionally, healthcare providers may recommend follow-up evaluations to assess the progression of symptoms and to provide supportive care as needed. It is important for patients to understand the nature of spinocerebellar ataxia and the potential impact on their daily lives, as well as the importance of ongoing medical support.
| Short Descr | ATXN7 GENE DETC ABNOR ALLELE | Medium Descr | ATXN7 GENE ANALYSIS EVAL DETECT ABNORMAL ALLELES | Long Descr | ATXN7 (ataxin 7) (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 |
| 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. | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | GA | Waiver of liability statement issued as required by payer policy, individual case | GW | Service not related to the hospice patient's terminal condition | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure |
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| 2019-01-01 | Added | Added |
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