CPT® Code 81217

Official Description

BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; known familial variant

Common Language Description

The CPT® Code 81217 pertains to the molecular genetic testing of the BRCA2 gene, which is crucial for the repair of DNA and the maintenance of genomic stability. The BRCA2 gene, located on chromosome 13, plays a significant role in preventing uncontrolled cell growth by stabilizing genetic material. This gene is part of a family of genes that are responsible for the error-free repair of chromosomal damage, particularly in the context of DNA double strand breaks. When mutations occur in the BRCA2 gene, its ability to repair damaged DNA is compromised, leading to the uncontrolled proliferation of cells. Such mutations are notably associated with an increased risk of developing early-onset breast and ovarian cancers in females, as well as certain other cancers in both males and females. The testing process involves analyzing whole blood or buccal cells to conduct a full sequence analysis, which compares segments of the gene to identify similarities or differences and establish familial relationships. This analysis also examines intrinsic features of the gene, including active sites for post-translational modifications, gene structures, and the distribution of introns and exons, along with regulatory elements. Genetic markers are identified through the detection of point mutations or single nucleotide polymorphisms. Specifically, CPT® Code 81217 is utilized when a BRCA2 gene analysis is performed for a known familial variant, meaning that the test focuses on a specific mutation that has already been identified in a family member. This is particularly relevant in families with a history of cancers such as breast, ovarian, prostate, skin, and pancreatic cancers. In contrast, other codes, such as CPT® Code 81167, are used for full duplication or deletion analyses to detect large gene rearrangements, where the normal gene should have two copies per cell, and deviations from this indicate potential variants.

1. Indications

The BRCA2 gene analysis (CPT® Code 81217) is indicated for individuals with a known familial variant of the BRCA2 gene. This testing is particularly relevant in the following scenarios:

Family History of Breast Cancer Individuals with a family history of breast cancer may undergo testing to determine if they carry a mutation in the BRCA2 gene that increases their risk of developing the disease.
Family History of Ovarian Cancer Women with relatives who have had ovarian cancer are also candidates for this genetic testing to assess their risk associated with BRCA2 mutations.
Family History of Prostate Cancer Men with a family history of prostate cancer may be tested to evaluate the potential hereditary risk linked to BRCA2 mutations.
Family History of Skin Cancer Individuals with a background of skin cancer in the family may be assessed for BRCA2 mutations that could contribute to their risk.
Family History of Pancreatic Cancer Testing may be indicated for those with a familial history of pancreatic cancer to identify any hereditary risk factors associated with BRCA2 mutations.

2. Procedure

The procedure for CPT® Code 81217 involves several key steps to ensure accurate analysis of the BRCA2 gene for known familial variants:

Sample Collection A sample is collected from the patient, which can be either whole blood or buccal cells. This sample serves as the source of DNA for the genetic analysis.
DNA Extraction The DNA is extracted from the collected sample using standard laboratory techniques to isolate the genetic material necessary for testing.
Sequence Analysis The extracted DNA undergoes full sequence analysis, where specific segments of the BRCA2 gene are compared to identify any known familial mutations. This analysis focuses on the specific site of the gene that has been previously identified in family members.
Identification of Variants The analysis includes the identification of point mutations or single nucleotide polymorphisms that may indicate the presence of a known familial variant.
Reporting Results Once the analysis is complete, the results are compiled and reported, indicating whether the known familial variant is present in the patient’s DNA.

3. Post-Procedure

After the BRCA2 gene analysis is completed, patients may receive genetic counseling to discuss the implications of the test results. If a known familial variant is identified, healthcare providers will discuss the associated risks for breast, ovarian, and other cancers, as well as potential surveillance and preventive measures. Patients may also be advised on the importance of informing family members about the results, as this information can be relevant for their health management. Follow-up appointments may be scheduled to address any questions or concerns regarding the results and to plan further action based on the findings.

Short Descr	BRCA2 GENE KNOWN FAMIL VRNT
Medium Descr	BRCA2 GENE ANALYSIS KNOWN FAMILIAL VARIANT
Long Descr	BRCA2 (BRCA2, 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.
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.
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