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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 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 ATXN10 gene, which is the focus of this analysis, is situated on the long (q) arm of chromosome 22 at position 13.31 (22q13.31). This gene plays a vital role in neuron survival, differentiation, and the development of neurites through the mitogen-activated protein kinase cascade. The ATXN10 gene features a DNA allele characterized by a specific repeat pattern of the amino acids ATTCT within its intronic region. Typically, the normal repeat range is between 9 to 32 repeats; however, in cases of SCA10, this number can escalate dramatically to between 800 and 4500 repeats. The CPT® Code 81183 is utilized to report the ATXN10 gene analysis aimed at evaluating and detecting these abnormal (expanded) alleles.
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The ATXN10 gene analysis is indicated for individuals who exhibit symptoms consistent with spinocerebellar ataxia (SCA). These symptoms may include:
The procedure for ATXN10 gene analysis involves several key steps to ensure accurate detection of abnormal alleles. First, a sample is collected from the patient, typically through a blood draw or saliva sample, which contains the DNA necessary for analysis. Next, the laboratory performs DNA extraction to isolate the genetic material from the sample. Following extraction, polymerase chain reaction (PCR) techniques are employed to amplify the specific regions of the ATXN10 gene that contain the repeat sequences. This amplification is crucial for detecting the number of repeats present in the gene. Once the amplification is complete, the laboratory conducts sequencing or fragment analysis to evaluate the repeat pattern of the ATXN10 gene. The results are then interpreted to determine if the number of repeats falls within the normal range of 9-32 or if it is indicative of spinocerebellar ataxia type 10, characterized by an expanded repeat range of 800-4500. Finally, the findings are compiled into a report that is provided to the healthcare provider for further clinical decision-making.
After the ATXN10 gene analysis is completed, the patient may receive counseling regarding the results, especially if abnormal alleles are detected. This counseling can include discussions about the implications of the findings, potential symptoms to monitor, and options for management or treatment. It is also important for healthcare providers to consider follow-up testing or referrals to specialists, such as genetic counselors or neurologists, for comprehensive care. Patients may be advised on lifestyle modifications and support resources to help manage symptoms associated with spinocerebellar ataxia. Additionally, the healthcare team should ensure that the patient understands the significance of the results and any potential genetic implications for family members.
| Short Descr | ATXN10 GENE DETC ABNOR ALLEL | Medium Descr | ATXN10 GENE ANALYSIS EVAL DETC ABNORMAL ALLELES | Long Descr | ATXN10 (ataxin 10) (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. | XS | Separate structure, a service that is distinct because it was performed on a separate organ/structure | GW | Service not related to the hospice patient's terminal condition |
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| 2019-01-01 | Added | Added |
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