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Molecular genetic testing is a critical diagnostic tool used to identify specific mutations in the BCR/ABL1 gene, which are commonly associated with chronic myelogenous leukemia (CML). This testing focuses on a particular genetic alteration known as a reciprocal translocation, designated as t(9;22). This translocation involves the BCR (breakpoint cluster region) gene located on chromosome 22, often 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 uncontrolled cell proliferation even in the absence of cytokine signals. This mechanism significantly increases the risk of developing certain types of cancers, particularly 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 monitoring residual disease during and after treatment. The BCR gene contains three distinct breakpoint cluster regions, and the specific code 81206 is utilized to identify the major breakpoint, which occurs at p210 within a 5.8 kb major breakpoint cluster region (M-bcr) around exon b3. This major breakpoint results in the formation of a BCR-ABL1 p210 chimeric transcript, where BCR is fused at exon b2 or b3 with ABL1 exons 2 through 11. For identification of a minor breakpoint, which occurs at p190 in the minor breakpoint cluster region (m-bcr) on intron 1, the code 81207 is used. This minor breakpoint leads to the fusion of BCR exon 1 with the same ABL1 exons. Additionally, the code 81208 is designated for identifying other breakpoint cluster regions that are not classified as major or minor.
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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 results:
After the BCR/ABL1 translocation analysis, patients may not require any specific post-procedure care. However, it is essential for healthcare providers to discuss the results with the patient, as these findings will guide further treatment decisions. Patients may need to undergo regular monitoring to assess treatment response and detect any signs of residual disease. Follow-up appointments should be scheduled to review the results and adjust treatment plans as necessary based on the findings of the analysis.
| Short Descr | BCR/ABL1 GENE MAJOR BP | Medium Descr | BCR/ABL1 MAJOR BREAKPNT QUALITATIVE/QUANTITATIVE | Long Descr | BCR/ABL1 (t(9;22)) (eg, chronic myelogenous leukemia) translocation analysis; major 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. | GZ | Item or service expected to be denied as not reasonable and necessary | 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. | 26 | Professional component: certain procedures are a combination of a physician or other qualified health care professional component and a technical component. when the physician or other qualified health care professional component is reported separately, the service may be identified by adding modifier 26 to the usual procedure number. | GA | Waiver of liability statement issued as required by payer policy, individual case | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | 76 | Repeat procedure or service by same physician or other qualified health care professional: it may be necessary to indicate that a procedure or service was repeated by the same physician or other qualified health care professional subsequent to the original procedure or service. this circumstance may be reported by adding modifier 76 to the repeated procedure or service. note: this modifier should not be appended to an e/m service. | 91 | Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient. | GV | Attending physician not employed or paid under arrangement by the patient's hospice provider | GW | Service not related to the hospice patient's terminal condition | Q6 | Service furnished under a fee-for-time compensation arrangement by a substitute physician or by a substitute physical therapist furnishing outpatient physical therapy services in a health professional shortage area, a medically underserved area, or a rural area | XP | Separate practitioner, a service that is distinct because it was performed by a different practitioner |
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| 2023-01-01 | Changed | Code description changed. |
| 2012-01-01 | Added | Added |
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