CPT® Code 81215

Official Description

BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant

Common Language Description

Molecular genetic testing is a critical procedure used to identify mutations in the BRCA1 gene, which is located on chromosome 17. The BRCA1 gene plays a vital role in stabilizing genetic material and preventing uncontrolled cell growth, functioning as a tumor suppressor. It is part of a gene family that is responsible for 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. This malfunction is significantly 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. Specifically, BRCA1 mutations in females are linked to a heightened 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 for identifying hereditary cancer risks, guiding appropriate treatment options, and determining which family members may also be at risk. The testing process typically involves analyzing whole blood or buccal cells. Full sequence analysis is conducted to compare gene segments, identifying similarities or differences that can reveal familial relationships. 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, if variants are not identified through sequence analysis, a full duplication/deletion analysis may be performed to detect large gene rearrangements. In normal circumstances, each cell should contain two copies of the BRCA1 gene, except for sex chromosomes; thus, the presence of zero or one copy indicates a deletion variant, while three or more copies suggest a duplication variant. When testing for a known familial variant, the analysis focuses on a specific site of the BRCA1 gene to identify mutations that have already been documented in another family member.

1. Indications

The BRCA1 gene analysis is indicated for individuals who may have a hereditary predisposition to breast and ovarian cancers, particularly when there is a known familial variant. The following conditions and circumstances warrant this genetic testing:

Family History of Cancer Individuals with a family history of breast, ovarian, cervical, uterine, pancreatic, or colon cancers may be at increased risk and should consider testing.
Personal History of Cancer Patients who have been diagnosed with breast or ovarian cancer, especially at an early age, may benefit from BRCA1 testing to assess hereditary risk.
Known Familial Variant Testing is specifically indicated for individuals who have a family member with a previously identified BRCA1 mutation, allowing for targeted analysis of that known variant.

2. Procedure

The procedure for BRCA1 gene analysis involves several key steps to ensure accurate identification of mutations. The following procedural steps are typically followed:

Sample Collection The first step involves collecting 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 isolates the genetic material necessary for further testing.
Full Sequence Analysis The extracted DNA undergoes full sequence analysis, where specific segments of the BRCA1 gene are compared to identify any mutations. This analysis examines the gene's structure, including introns, exons, and regulatory elements.
Identification of Genetic Markers During the analysis, genetic markers are identified by detecting point mutations or single nucleotide polymorphisms that may indicate a variant.
Full Duplication/Deletion Analysis If no variants are found through sequence analysis, a full duplication/deletion analysis may be performed to detect large gene rearrangements. This step is crucial for identifying any significant alterations in the gene structure.
Analysis of Known Familial Variant For individuals being tested for a known familial variant, the specific site on the BRCA1 gene is analyzed to confirm the presence of the mutation previously identified in a family member.

3. Post-Procedure

After the BRCA1 gene analysis is completed, the results are interpreted and reported to the healthcare provider. Patients may receive genetic counseling to discuss the implications of the test results, including the potential risks for themselves and their family members. If a mutation is identified, further discussions regarding surveillance, preventive measures, and treatment options may be warranted. It is important for patients to understand the significance of their results and how they may impact their health and the health of their relatives. Follow-up testing or additional screenings may also be recommended based on the findings.

Short Descr	BRCA1 GENE KNOWN FAMIL VRNT
Medium Descr	BRCA1 GENE ANALYSIS KNOWN FAMILIAL VARIANT
Long Descr	BRCA1 (BRCA1, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant
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.