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Official Description

BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and full duplication/deletion analysis (ie, detection of large gene rearrangements)

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

Molecular genetic testing is a critical procedure used to identify mutations in the BRCA1 and BRCA2 genes, which are essential for maintaining genomic stability. The BRCA1 gene is located on chromosome 17, while the BRCA2 gene is found on chromosome 13. Both genes function as tumor suppressors, playing a vital role in preventing uncontrolled cell growth and facilitating the error-free repair of chromosomal damage, particularly in the context of DNA double-strand breaks. When mutations occur in these genes, their ability to repair damaged DNA is compromised, leading to unchecked cellular proliferation. This malfunction is significantly associated with an elevated risk of developing early-onset breast and ovarian cancers in females, as well as certain other cancers in both males and females. The prevalence of mutations in the BRCA1 and BRCA2 genes is notably higher in specific populations, including Norwegian, Dutch, Icelandic, and Ashkenazi Jewish individuals. Genetic testing for these mutations is crucial as it can help identify hereditary cancer syndromes, guide appropriate treatment options, and inform family members about their potential risk of carrying similar mutations. The CPT® Code 81162 encompasses a comprehensive analysis that includes both full sequence analysis and full duplication/deletion analysis, which is essential for detecting large gene rearrangements. The testing typically involves the analysis of whole blood or buccal cells, allowing for a thorough examination of the gene structure, including the identification of point mutations or single nucleotide polymorphisms. This detailed genetic analysis is vital for understanding the implications of BRCA1 and BRCA2 mutations in cancer risk and management.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The procedure is indicated for individuals who may be at risk for hereditary breast and ovarian cancer due to family history or other risk factors. The following conditions warrant the performance of 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 testing to assess their risk of carrying BRCA1 or BRCA2 mutations.
  • Family History of Ovarian Cancer Women with a family history of ovarian cancer are also candidates for this testing, as mutations in these genes significantly increase the risk of developing this type of cancer.
  • Known Mutation in Family Individuals with a known BRCA1 or BRCA2 mutation in their family may 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 tested to identify potential genetic risks.
  • Ethnic Background Individuals of Ashkenazi Jewish descent or other populations with a higher prevalence of BRCA1 and BRCA2 mutations may be recommended for testing due to increased risk.

2. Procedure

The procedure for CPT® Code 81162 involves several critical steps to ensure comprehensive analysis of the BRCA1 and BRCA2 genes:

  • Sample Collection The first step involves the collection of a biological sample, which can be whole blood or buccal cells. This sample serves as the source of DNA for analysis.
  • Full Sequence Analysis The next step is the full sequence analysis of both the BRCA1 and BRCA2 genes. This analysis compares the gene segments to identify any mutations or variations that may be present. It examines the entire coding region of the genes, including active sites, post-translational modification sites, and the distribution of introns and exons.
  • Full Duplication/Deletion Analysis Following the sequence analysis, a full duplication/deletion analysis is performed. This step is crucial for detecting large gene rearrangements that may not be identified through sequence analysis alone. It assesses the number of gene copies present in the sample, where a normal gene should have two copies per cell. A finding of zero or one copy indicates a deletion variant, while three or more copies suggest a duplication variant.
  • Data Interpretation After the analyses are completed, the results are interpreted to identify any mutations or variants that may be associated with an increased risk of cancer. This interpretation is essential for determining the implications for the patient and their family members.

3. Post-Procedure

Post-procedure care involves providing the patient with the results of the genetic testing and discussing the implications of any identified mutations. Patients may require genetic counseling to understand their results, the associated risks, and potential preventive measures or treatment options. Additionally, family members may also need to be informed about their potential risk based on the results. Follow-up appointments may be necessary to address any questions or concerns and to discuss further testing or surveillance strategies if mutations are identified.

Short Descr BRCA1&2 GEN FULL SEQ DUP/DEL
Medium Descr BRCA1 BRCA2 GENE ALYS FULL SEQ FULL DUP/DEL ALYS
Long Descr BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and 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) T2D - Other tests - other
MUE 1

This is a primary code that can be used with these additional add-on codes.

0131U Add-on Code APC A Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), targeted mRNA sequence analysis panel (13 genes) (List separately in addition to code for primary procedure)
0132U Female Edit Add-on Code APC A Hereditary ovarian cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), targeted mRNA sequence analysis panel (17 genes) (List separately in addition to code for primary procedure)
0133U Male Edit Add-on Code APC A Hereditary prostate cancer-related disorders, targeted mRNA sequence analysis panel (11 genes) (List separately in addition to code for primary procedure)
0134U Add-on Code APC A Hereditary pan cancer (eg, hereditary breast and ovarian cancer, hereditary endometrial cancer, hereditary colorectal cancer), targeted mRNA sequence analysis panel (18 genes) (List separately in addition to code for primary procedure)
0135U Female Edit Add-on Code APC A Hereditary gynecological cancer (eg, hereditary breast and ovarian cancer, hereditary endometrial cancer, hereditary colorectal cancer), targeted mRNA sequence analysis panel (12 genes) (List separately in addition to code for primary procedure)
0138U Add-on Code APC A BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) mRNA sequence analysis (List separately in addition to code for primary procedure)
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
GZ Item or service expected to be denied as not reasonable and necessary
GA Waiver of liability statement issued as required by payer policy, individual case
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.
91 Repeat clinical diagnostic laboratory test: in the course of treatment of the patient, it may be necessary to repeat the same laboratory test on the same day to obtain subsequent (multiple) test results. under these circumstances, the laboratory test performed can be identified by its usual procedure number and the addition of modifier 91. note: this modifier may not be used when tests are rerun to confirm initial results; due to testing problems with specimens or equipment; or for any other reason when a normal, one-time, reportable result is all that is required. this modifier may not be used when other code(s) describe a series of test results (eg, glucose tolerance tests, evocative/suppression testing). this modifier may only be used for laboratory test(s) performed more than once on the same day on the same patient.
GW Service not related to the hospice patient's terminal condition
GY Item or service statutorily excluded, does not meet the definition of any medicare benefit or, for non-medicare insurers, is not a contract benefit
Q1 Routine clinical service provided in a clinical research study that is in an approved clinical research study
Date
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2019-01-01 Changed Description Changed
2016-01-01 Added Added
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