CPT® Code 81166

Official Description

BRCA1 (BRCA1, 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 81166 pertains to the molecular genetic testing of the BRCA1 gene, which is crucial for understanding hereditary breast and ovarian cancer risks. The BRCA1 gene, located on chromosome 17, plays a significant role in maintaining the integrity of genetic material by facilitating the repair of DNA damage. This gene is part of a family of genes that are responsible for the error-free repair of chromosomal damage and the resolution of DNA double-strand breaks. When mutations occur in the BRCA1 gene, its ability to repair damaged DNA is compromised, leading to uncontrolled cell proliferation, which can result in cancer development. Specifically, mutations in the BRCA1 gene are associated with an increased risk of early-onset breast and ovarian cancers in females, as well as a heightened risk for certain other cancers in both genders, including cervical, uterine, pancreatic, and colon cancers in females, and breast, pancreatic, and testicular cancers in males. Genetic testing for BRCA1 mutations is essential for identifying hereditary cancer syndromes, guiding treatment options, and assessing the risk for family members. The testing process typically involves analyzing whole blood or buccal cells. The full sequence analysis, represented by CPT® Code 81165, is utilized to compare gene segments for similarities and differences, which aids in identifying genetic relationships. This analysis examines various aspects of the gene, including active and post-translational modification sites, gene structures, the distribution of introns and exons, and regulatory elements. Additionally, genetic markers can be identified through the detection of point mutations or single nucleotide polymorphisms. CPT® Code 81166 specifically refers to the full duplication/deletion analysis, which is employed to detect large gene rearrangements that may not be identified through standard sequence analysis. In a normal genetic context, each cell should contain two copies of the BRCA1 gene, except for sex chromosomes. The presence of zero or one copy indicates a deletion variant, while three or more copies suggest a duplication variant. Furthermore, when testing for a known familial variant, as indicated by CPT® Code 81215, a specific site on the BRCA1 gene is analyzed for mutations that have already been identified in another family member, thereby providing critical information for genetic counseling and risk assessment.

1. Indications

The BRCA1 gene analysis using CPT® Code 81166 is indicated for individuals who may have a hereditary predisposition to breast and ovarian cancers, as well as other associated malignancies. The following conditions and circumstances warrant this genetic testing:

Family History of Breast Cancer Individuals with a family history of breast cancer, particularly those diagnosed at an early age, may benefit from BRCA1 testing to assess their risk.
Family History of Ovarian Cancer Women with a family history of ovarian cancer are also candidates for this testing, as BRCA1 mutations significantly increase the risk of developing this type of cancer.
Known BRCA1 Mutation in Family Individuals with a known BRCA1 mutation in a family member should undergo testing to determine if they carry the same mutation.
Personal History of Breast or Ovarian Cancer Patients with a personal history of breast or ovarian cancer, especially those diagnosed at a young age or with triple-negative breast cancer, may be recommended for this analysis.
Male Breast Cancer Men diagnosed with breast cancer may also be tested for BRCA1 mutations, as these mutations can increase the risk of breast cancer in males.

2. Procedure

The procedure for BRCA1 gene analysis using CPT® Code 81166 involves several key steps to ensure accurate detection of large gene rearrangements. The following procedural steps are outlined:

Sample Collection The first step involves the collection of a biological sample, which can be either whole blood or buccal cells. This sample serves as the source of DNA for analysis.
DNA Extraction Once the sample is collected, DNA is extracted from the cells. This process involves breaking down the cell membranes and isolating the DNA for further analysis.
Full Duplication/Deletion Analysis The extracted DNA undergoes full duplication/deletion analysis to detect large gene rearrangements in the BRCA1 gene. This analysis is crucial for identifying any significant alterations in the gene structure that may not be evident through standard sequencing methods.
Data Interpretation After the analysis is complete, the results are interpreted by qualified genetic professionals. They assess the presence of deletion or duplication variants, which can indicate potential mutations in the BRCA1 gene.
Reporting Results Finally, the findings are compiled into a report that details the results of the analysis, including any identified mutations or variants. This report is then communicated to the healthcare provider and the patient for further discussion and potential implications for treatment and family risk assessment.

3. Post-Procedure

Post-procedure care following BRCA1 gene analysis primarily involves the interpretation of results and subsequent counseling. Patients may experience anxiety or concern regarding their results, and it is essential for healthcare providers to offer support and guidance. If a mutation is identified, genetic counseling is recommended to discuss the implications for the patient and their family members, including potential cancer screening and prevention strategies. Additionally, if no mutations are found, patients may still benefit from ongoing surveillance and awareness of their cancer risk. Follow-up appointments may be scheduled to address any questions or concerns that arise after receiving the test results.

Short Descr	BRCA1 GENE FULL DUP/DEL ALYS
Medium Descr	BRCA1 GENE ANALYSIS FULL DUP/DEL ANALYSIS
Long Descr	BRCA1 (BRCA1, 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

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.
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