CPT® Code 81163

Official Description

BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis

Common Language Description

The CPT® Code 81163 pertains to the full sequence analysis of the BRCA1 and BRCA2 genes, which are critical components in the study of hereditary breast and ovarian cancer. 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 ensuring the accurate 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 those of Norwegian, Dutch, Icelandic, and Ashkenazi Jewish descent. Molecular genetic testing, such as that represented by CPT® Code 81163, is instrumental in identifying these hereditary cancer risks, guiding appropriate treatment options, and determining which family members may also be at risk. The full sequence analysis conducted under this code involves a comprehensive examination of the gene segments to identify any mutations or variations. This process includes the study of 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. In cases where the sequence analysis does not reveal any variants, a full duplication/deletion analysis may be necessary to uncover large gene rearrangements. The normal genetic structure should present two copies of each gene per cell, 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. It is important to note that CPT® Code 81163 specifically reports the full sequence analysis, distinguishing it from other codes that may focus on different aspects of genetic testing for the BRCA genes.

1. Indications

The full sequence analysis of the BRCA1 and BRCA2 genes, as represented by CPT® Code 81163, is indicated for the following conditions:

Hereditary Breast Cancer Identification of mutations in the BRCA1 and BRCA2 genes is crucial for assessing the risk of hereditary breast cancer, particularly in individuals with a family history of the disease.
Hereditary Ovarian Cancer The analysis is also indicated for evaluating the risk of hereditary ovarian cancer, as mutations in these genes significantly increase susceptibility.
Family History of Cancer Individuals with a strong family history of breast, ovarian, or related cancers may be recommended for this genetic testing to determine their risk status.
Population-Specific Risk Testing is particularly relevant for individuals of Norwegian, Dutch, Icelandic, and Ashkenazi Jewish descent, where the prevalence of BRCA mutations is higher.

2. Procedure

The procedure for conducting a full sequence analysis of the BRCA1 and BRCA2 genes involves several key steps:

Sample Collection The first step in the procedure is the collection of a biological sample, which can be 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 Sequence Analysis The extracted DNA undergoes full sequence analysis, where the specific segments of the BRCA1 and BRCA2 genes are examined. This analysis compares the gene sequences to identify any mutations or variations that may be present.
Identification of Variants During the analysis, the laboratory looks for point mutations or single nucleotide polymorphisms that could indicate a mutation. The analysis also includes the study of gene structures, intron and exon distribution, and regulatory elements.
Reporting Results After the analysis is complete, the results are compiled into a report that details any identified mutations or variants. This report is then provided to the healthcare provider for further interpretation and discussion with the patient.

3. Post-Procedure

Post-procedure care following the full sequence analysis of the BRCA1 and BRCA2 genes typically involves the following considerations:

Patients may need to schedule a follow-up appointment to discuss the results of the genetic testing. If mutations are identified, healthcare providers will discuss the implications for the patient’s health, potential cancer risks, and available preventive measures or treatment options. Additionally, family members may also need to be informed about the results, as they may share similar genetic risks. It is essential for patients to receive genetic counseling to understand the results fully and to make informed decisions regarding their health and the health of their family members.

Short Descr	BRCA1&2 GENE FULL SEQ ALYS
Medium Descr	BRCA1 BRCA2 GENE ANALYSIS FULL SEQUENCE ANALYSIS
Long Descr	BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, 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.
GV	Attending physician not employed or paid under arrangement by the patient's hospice provider
GZ	Item or service expected to be denied as not reasonable and necessary
XU	Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service