CPT® Code 81164

Official Description

BRCA1 (BRCA1, DNA repair associated), 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 81164 pertains to the molecular genetic testing of the BRCA1 and BRCA2 genes, which are crucial for DNA repair and tumor suppression. Specifically, this code is used for full duplication/deletion analysis, which is designed to detect large gene rearrangements that may not be identified through standard sequencing methods. The BRCA1 gene is located on chromosome 17, while the BRCA2 gene is found on chromosome 13. Both genes play a significant role in maintaining genomic stability by repairing DNA double-strand breaks and preventing uncontrolled cell proliferation. Mutations in these genes can lead to a failure in DNA repair mechanisms, resulting in an increased risk of developing certain cancers, particularly breast and ovarian cancers in women, as well as other cancers in both genders. The prevalence of BRCA mutations is notably higher in specific populations, including those of Norwegian, Dutch, Icelandic, and Ashkenazi Jewish descent. Genetic testing for these mutations is essential for identifying hereditary cancer syndromes, guiding treatment options, and assessing the risk for family members. The analysis involves testing whole blood or buccal cells, where the genetic material is examined for variations that could indicate the presence of mutations. The full duplication/deletion analysis specifically focuses on identifying large rearrangements in the BRCA genes, which may not be detected through standard full sequence analysis. This comprehensive approach to genetic testing is vital for effective cancer risk assessment and management.

1. Indications

The BRCA1 and BRCA2 gene analysis using CPT® Code 81164 is indicated for individuals who may be at increased risk for hereditary breast and ovarian cancer syndromes. The following conditions and factors may warrant this genetic testing:

Family History of Breast or Ovarian Cancer Individuals with a strong family history of breast or ovarian cancer, particularly if multiple relatives have been diagnosed, may benefit from this analysis.
Personal History of Breast or Ovarian Cancer Patients who have been diagnosed with breast or ovarian cancer, especially at a young age, may be candidates for testing to determine if a hereditary mutation is present.
Known BRCA Mutation in Family If a family member has already been identified as having a BRCA1 or BRCA2 mutation, other relatives may be tested to assess their risk.
Ethnic Background Individuals of Ashkenazi Jewish, Norwegian, Dutch, or Icelandic descent may be at higher risk for BRCA mutations and should consider testing.

2. Procedure

The procedure for conducting the BRCA1 and BRCA2 full duplication/deletion analysis involves several key steps:

Sample Collection A sample is collected from the patient, typically through whole blood or buccal cells. This sample serves 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. This step is crucial for obtaining high-quality genetic material.
Full Duplication/Deletion Analysis The extracted DNA undergoes a full duplication/deletion analysis, which focuses on detecting large gene rearrangements in the BRCA1 and BRCA2 genes. This analysis identifies whether there are zero, one, or multiple copies of the gene, indicating potential deletions or duplications.
Data Interpretation The results of the analysis are interpreted by genetic specialists, who assess the presence of any large rearrangements and their implications for cancer risk.
Reporting Results The findings are compiled into a report that details the presence or absence of mutations, which is then communicated to the healthcare provider for further action and counseling.

3. Post-Procedure

After the BRCA1 and BRCA2 gene analysis is completed, patients may require follow-up consultations to discuss the results and their implications. If a mutation is identified, genetic counseling is recommended to help patients understand their risk for developing cancer and to explore potential preventive measures or treatment options. Family members may also be advised to undergo testing based on the results. It is important for patients to receive support and information regarding the psychological and medical aspects of their results, as well as the implications for family planning and screening protocols.

Short Descr	BRCA1&2 GEN FUL DUP/DEL ALYS
Medium Descr	BRCA1 BRCA2 GENE ANALYSIS FULL DUP/DEL ANALYSIS
Long Descr	BRCA1 (BRCA1, DNA repair associated), 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