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Molecular genetic testing is a critical procedure used to identify specific mutations within the BCR/ABL1 gene, which are frequently associated with chronic myelogenous leukemia (CML). This testing focuses on a particular type of genetic alteration known as a reciprocal translocation, specifically t(9;22). This translocation involves the BCR (breakpoint cluster region) gene located on chromosome 22, commonly referred to as the Philadelphia chromosome, and the ABL1 (V-abl Abelson murine leukemia viral oncogene) gene found on chromosome 9. The resulting fusion gene from this translocation encodes a tyrosine kinase that is unregulated and targets the cytoplasm, leading to cell proliferation without the normal regulatory influence of cytokines. This unregulated growth predisposes individuals to the development of certain cancers, including CML. At the time of initial diagnosis, karyotyping and molecular testing techniques, such as reverse transcription polymerase chain reaction (rtPCR) or fluorescence in situ hybridization (FISH), are essential for defining tumor markers. These markers are crucial for measuring residual disease during and after treatment. The BCR gene contains three distinct breakpoint cluster regions, which are important for identifying the specific type of translocation present. For instance, CPT® Code 81206 is used for identifying the major breakpoint at p210, which occurs in a 5.8 kb major breakpoint cluster region (M-bcr) around exon b3, resulting in the BCR-ABL1 p210 chimeric transcription. Alternatively, CPT® Code 81207 is designated for the minor breakpoint at p190, located in the minor breakpoint cluster region (m-bcr) on intron 1, leading to the fusion of BCR exon 1 with ABL1 exons 2 through 11. CPT® Code 81208 is specifically utilized for identifying other breakpoint cluster regions that are not classified as major or minor, thus providing a comprehensive approach to the genetic analysis of CML.
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The BCR/ABL1 translocation analysis is indicated for the following conditions:
The procedure for BCR/ABL1 translocation analysis involves several key steps to ensure accurate identification of the genetic mutation:
After the BCR/ABL1 translocation analysis, the patient may not require any specific post-procedure care related to the testing itself. However, it is essential for healthcare providers to discuss the results with the patient, as the findings will influence treatment decisions and ongoing management of chronic myelogenous leukemia. Regular monitoring and follow-up testing may be necessary to assess treatment response and detect any residual disease.
| Short Descr | BCR/ABL1 GENE OTHER BP | Medium Descr | BCR/ABL1 OTHER BREAKPNT QUALITATIVE/QUANTITATIVE | Long Descr | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; other breakpoint, qualitative or quantitative | 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) | T1H - Lab tests - other (non-Medicare fee schedule) | MUE | 1 | CCS Clinical Classification | 234 - Pathology |
| 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. | 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. | GW | Service not related to the hospice patient's terminal condition | GZ | Item or service expected to be denied as not reasonable and necessary | 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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| 2023-01-01 | Changed | Code description changed. |
| 2012-01-01 | Added | Added |
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