CPT® Code 81165

Official Description

BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis

Common Language Description

Molecular genetic testing is a critical procedure used to identify mutations in the BRCA1 gene, which is located on chromosome 17. This gene plays a vital role in stabilizing genetic material and preventing uncontrolled cell growth, functioning as a tumor suppressor. The BRCA1 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 BRCA1 gene, the gene's 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. In females, BRCA1 mutations also elevate the risk of cervical, uterine, pancreatic, and colon cancers. In males, these mutations increase the risk of breast cancer, as well as pancreatic and testicular cancers. Genetic testing for BRCA1 mutations is essential as it can help identify hereditary cancer syndromes, guide appropriate treatment options, and inform family members who may be at risk. The testing process typically involves analyzing whole blood or buccal cells. The full sequence analysis, denoted by CPT® Code 81165, involves comparing segments of the BRCA1 gene to identify similarities or differences, thereby elucidating relationships and potential mutations. This analysis includes studying active and post-translational modification sites, gene structures, the distribution of introns and exons, and regulatory elements. Genetic markers are identified through the detection of point mutations or single nucleotide polymorphisms. Additionally, variants that are not identified through sequence analysis may be detected using a full duplication/deletion analysis (CPT® Code 81166), which is designed to uncover large gene rearrangements. In a normal genetic context, there should be two copies of the BRCA1 gene per cell, except in the case of sex chromosomes; thus, 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 (CPT® Code 81215), a specific site on the BRCA1 gene is analyzed for mutations that have already been identified in another family member.

1. Indications

The BRCA1 gene analysis is indicated for individuals who may be at risk for hereditary breast and ovarian cancer syndromes. 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 BRCA1 testing.
Male Breast Cancer Men diagnosed with breast cancer may also be tested for BRCA1 mutations, as these mutations can increase their risk of developing breast cancer and other associated cancers.

2. Procedure

The procedure for BRCA1 gene analysis involves several detailed steps to ensure accurate identification of mutations. The following steps outline the process:

Sample Collection The first step involves collecting a sample, which can be whole blood or buccal cells, from the individual being tested. 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 isolates the genetic material necessary for further analysis.
Full Sequence Analysis The extracted DNA undergoes full sequence analysis, which involves comparing the BRCA1 gene segments to identify any mutations. This analysis examines the entire gene, including active and post-translational modification sites, introns, exons, and regulatory elements.
Identification of Genetic Markers During the analysis, genetic markers are identified by detecting point mutations or single nucleotide polymorphisms. This step is crucial for determining the presence of any harmful mutations.
Duplication/Deletion Analysis (if necessary) If the full sequence analysis does not identify any variants, a full duplication/deletion analysis may be performed to detect large gene rearrangements. This step is important for identifying any significant alterations in the gene structure.
Reporting Results After the analysis is complete, the results are compiled and reported. The report will indicate whether any mutations were found and may provide information on the implications of these findings for the individual and their family.

3. Post-Procedure

After the BRCA1 gene analysis is completed, individuals may receive counseling to discuss the results and their implications. If a mutation is identified, healthcare providers may recommend additional screenings, preventive measures, or treatment options based on the individual's risk profile. It is also important for individuals to inform family members about the results, as they may also be at risk for hereditary cancers. Follow-up appointments may be scheduled to monitor health and discuss any further testing or preventive strategies that may be appropriate.

Short Descr	BRCA1 GENE FULL SEQ ALYS
Medium Descr	BRCA1 GENE ANALYSIS FULL SEQUENCE ANALYSIS
Long Descr	BRCA1 (BRCA1, 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)	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.
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