CPT® Code 81167

Official Description

BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements)

Common Language Description

The CPT® Code 81167 pertains to the molecular genetic testing of the BRCA2 gene, which is crucial for the repair of DNA and the maintenance of genomic stability. This gene, located on chromosome 13, plays a significant role in preventing uncontrolled cell growth by stabilizing genetic material. The BRCA2 gene is part of a family of genes that are responsible for the error-free repair of chromosomal damage, particularly in the context of DNA double strand breaks. When mutations occur in the BRCA2 gene, its ability to repair damaged DNA is compromised, leading to the uncontrolled proliferation of cells. Such mutations are notably associated with 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 segments of the gene to identify similarities or differences and establish relationships. This analysis includes the examination of intrinsic features 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. The full duplication/deletion analysis specified by CPT® Code 81167 focuses on detecting large gene rearrangements, which are critical for understanding the genetic landscape of individuals with a family history of cancers linked to BRCA2 mutations. In this context, a normal BRCA2 gene should have two copies per cell, and deviations from this norm—such as zero or one copy indicating a deletion variant, or three or more copies suggesting a duplication variant—are significant findings in the analysis.

1. Indications

The BRCA2 gene analysis, as described by CPT® Code 81167, is indicated for individuals with a family history of specific cancers. The following conditions warrant this genetic testing:

Hereditary Breast Cancer Individuals with a family history of breast cancer, particularly those diagnosed at an early age.
Hereditary Ovarian Cancer Women with a family history of ovarian cancer, especially if diagnosed at a young age.
Other Cancers A family history of prostate, skin, or pancreatic cancers may also indicate the need for BRCA2 testing.

2. Procedure

The procedure for conducting a full duplication/deletion analysis of the BRCA2 gene involves several key steps:

Sample Collection A sample is obtained from the patient, typically through whole blood or buccal cells, which serve as the source of DNA for analysis.
DNA Extraction The DNA is extracted from the collected sample, ensuring that it is suitable for genetic analysis.
Full Sequence Analysis The extracted DNA undergoes full sequence analysis, where segments of the BRCA2 gene are compared to identify any mutations or variations. This step is crucial for detecting large gene rearrangements.
Duplication/Deletion Analysis The analysis specifically looks for large gene rearrangements, which may indicate either a deletion variant (zero or one copy of the gene) or a duplication variant (three or more copies of the gene). This step is essential for determining the genetic status of the BRCA2 gene in the patient.
Data Interpretation The results of the analysis are interpreted by qualified genetic professionals, who assess the findings in the context of the patient's family history and clinical background.

3. Post-Procedure

After the completion of the BRCA2 gene analysis, patients may receive genetic counseling to discuss the implications of the test results. This counseling is important for understanding the risk of hereditary cancers and the potential need for increased surveillance or preventive measures. Additionally, the results may inform family members about their own risk of carrying BRCA2 mutations. Follow-up care may include recommendations for regular screenings or preventive surgeries, depending on the findings and the patient's family history.

Short Descr	BRCA2 GENE FULL DUP/DEL ALYS
Medium Descr	BRCA2 GENE ANALYSIS FULL DUP/DEL ANALYSIS
Long Descr	BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full duplication/deletion analysis (ie, detection of large gene rearrangements)
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.
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
GZ	Item or service expected to be denied as not reasonable and necessary