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Molecular genetic testing is a critical procedure used to identify mutations in the BRCA2 gene, which is located on chromosome 13. This gene plays a vital role in stabilizing genetic material and preventing uncontrolled cell growth, functioning as a tumor suppressor. The BRCA2 gene is part of a gene family that is associated with the error-free repair of chromosomal damage and the repair of DNA double strand breaks. When mutations occur in the BRCA2 gene, its ability to repair damaged DNA is compromised, leading to uncontrolled cell proliferation. Such mutations are significantly linked to an increased risk of developing early onset breast and ovarian cancers in females, as well as certain other cancers in both men and women. The testing process involves analyzing whole blood or buccal cells to conduct a full sequence analysis, which compares various segments of the gene to identify similarities or differences and to establish relationships among them. This analysis includes studying intrinsic features of the gene, such as active sites for post-translational modifications, gene structures, and the distribution of introns, exons, and regulatory elements. Additionally, genetic markers can be identified through the detection of point mutations or single nucleotide polymorphisms. In cases where there is a known familial variant, a different CPT® code (81217) is utilized to analyze a specific site on the BRCA2 gene for mutations that have already been identified in other family members. Furthermore, another CPT® code (81167) is used for full duplication/deletion analysis, which detects large gene rearrangements. This analysis is crucial because a normal gene typically has two copies per cell, and deviations from this norm—such as zero or one copy indicating a deletion variant, or three or more copies indicating a duplication variant—can provide significant insights into genetic risks associated with cancer.
© Copyright 2025 Coding Ahead. All rights reserved.
The BRCA2 gene analysis is indicated for individuals with a family history of specific types of cancers, particularly:
The procedure for BRCA2 gene analysis involves several detailed steps to ensure accurate results:
Post-procedure care following BRCA2 gene analysis typically involves the communication of results to the patient and their healthcare provider. Patients may require genetic counseling to understand the implications of the test results, especially if mutations are identified. This counseling can help patients make informed decisions regarding their health management and potential preventive measures. Additionally, follow-up testing may be recommended for family members if a mutation is found, to assess their risk and guide further screening or preventive strategies. It is essential for patients to discuss the results with their healthcare provider to determine the appropriate next steps based on their individual risk factors and family history.
| Short Descr | BRCA2 GENE FULL SEQ ALYS | Medium Descr | BRCA2 GENE ANALYSIS FULL SEQUENCE ANALYSIS | Long Descr | BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis | 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. | XU | Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service | GA | Waiver of liability statement issued as required by payer policy, individual case | 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 | GZ | Item or service expected to be denied as not reasonable and necessary |
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| 2019-01-01 | Changed | Description Changed & AMA Guidelines changed |
| 2019-01-01 | Note | AMA Guideline removed. |
| 2012-01-01 | Added | Added |
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