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The CPT® Code 81344 pertains to the molecular genetic testing of the TBP (TATA box binding protein) gene, specifically aimed at identifying abnormal alleles that may be expanded. This testing is particularly relevant for conditions such as spinocerebellar ataxia type 17 (SCA17), which is also known as Huntington disease-like 4 (HDL4). SCA17 is a progressive neurodegenerative disorder that primarily affects the cerebellum, the part of the brain responsible for coordinating movement, and may also impact the cerebral cortex and striatum, leading to a range of neurological symptoms. The TBP gene is situated on the long arm of chromosome 6 at position 27 (6q27) and encodes a protein that plays a crucial role in the transcription of DNA into messenger RNA by binding to a specific DNA sequence known as the TATA box. This sequence serves as a critical landmark for the transcription machinery of the cell. The presence of expanded alleles in the TBP gene is associated with the development of symptoms such as uncoordinated movement, emotional instability, and cognitive decline, with symptom onset varying widely from early childhood to late adulthood. The gene features a unique trinucleotide repeat pattern consisting of CAG and CAA sequences, which can repeat multiple times, with expansions beyond 43 repeats being particularly significant in the manifestation of the disease. The analysis coded under 81344 is essential for evaluating these genetic variations and understanding their implications in the context of SCA17/HDL4.
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The TBP gene analysis (CPT® Code 81344) is indicated for the evaluation of individuals who may be exhibiting symptoms associated with spinocerebellar ataxia type 17 (SCA17) or Huntington disease-like 4 (HDL4). The following conditions and symptoms warrant this genetic testing:
The procedure for conducting the TBP gene analysis involves several key steps to ensure accurate detection of abnormal alleles:
After the TBP gene analysis is completed, patients may receive genetic counseling to discuss the results and their implications. If expanded alleles are detected, further discussions regarding potential symptoms, disease progression, and management options may be warranted. It is important for patients to understand the significance of their genetic results, including the potential for familial implications, as SCA17/HDL4 can have hereditary components. Follow-up appointments may be scheduled to monitor any emerging symptoms and to provide ongoing support and resources for affected individuals and their families.
| Short Descr | TBP GENE DETC ABNOR ALLELES | Medium Descr | TBP GENE ANALYSIS EVAL DETECT ABNORMAL ALLELES | Long Descr | TBP (TATA box binding protein) (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. | GW | Service not related to the hospice patient's terminal condition | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | 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. | GA | Waiver of liability statement issued as required by payer policy, individual case | 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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