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Molecular genetic testing is a critical procedure used to identify specific genetic abnormalities associated with various disorders. In the case of CPT® Code 81343, the focus is on the PPP2R2B gene, which encodes the protein phosphatase 2 regulatory subunit Bbeta. This gene is particularly relevant in the context of spinocerebellar ataxia type 12 (SCA12), a neurodegenerative condition that primarily affects the cerebellum, the part of the brain responsible for coordinating movement. The PPP2R2B gene is situated on the long (q) arm of chromosome 5 at position 32 (5q32) and plays a significant role in regulating cell growth and division through its protein product. The symptoms associated with SCA12 include a progressive loss of coordination in both gait and hand movements, the presence of action tremors, difficulties with hand-eye coordination, and in some cases, the emergence of pyramidal and extrapyramidal symptoms, as well as dementia. These symptoms typically begin to manifest in individuals between the ages of 40 and 50, although they can appear as early as age 8 and as late as age 55. The genetic analysis performed under this code specifically looks for abnormal alleles of the PPP2R2B gene, characterized by an expanded CAG repeat sequence. Normally, this sequence consists of 7 to 28 repeats; however, in individuals with SCA12, this repeat can expand to between 55 and 78 repeats. The identification of these abnormal alleles is crucial for diagnosis and understanding the genetic basis of the disorder.
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The molecular genetic testing for the PPP2R2B gene analysis is indicated for individuals who exhibit symptoms consistent with spinocerebellar ataxia type 12 (SCA12). The following conditions and symptoms warrant this genetic evaluation:
The procedure for conducting the PPP2R2B gene analysis involves several key steps to ensure accurate detection of abnormal alleles. The following procedural steps are typically followed:
After the completion of the PPP2R2B gene analysis, patients may receive counseling regarding the results of the test. If abnormal alleles are detected, further discussions may include the implications for the patient's health, potential symptoms, and family planning considerations. It is also important for healthcare providers to monitor the patient for any emerging symptoms associated with SCA12, as early intervention and management strategies can be beneficial. Follow-up appointments may be scheduled to discuss the results in detail and to provide support for any psychological or emotional impacts stemming from the diagnosis.
| Short Descr | PPP2R2B GEN DETC ABNOR ALLEL | Medium Descr | PPP2R2B GENE ANALYSIS EVAL DETC ABNORMAL ALLELES | Long Descr | PPP2R2B (protein phosphatase 2 regulatory subunit Bbeta) (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. | GA | Waiver of liability statement issued as required by payer policy, individual case | 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. | 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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