CPT® Code 81211

Official Description

BRCA1, BRCA2 (breast cancer 1 and 2) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants in BRCA1 (ie, exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb)

Common Language Description

The CPT® Code 81211 pertains to the molecular genetic testing of the BRCA1 and BRCA2 genes, which are critical components in the study of hereditary breast and ovarian cancer. These genes, located on chromosome 17 (BRCA1) and chromosome 13 (BRCA2), function as tumor suppressors, playing a vital role in maintaining the stability of genetic material and preventing the uncontrolled proliferation of cells. Mutations in these genes are associated with a significantly increased risk of developing breast cancer and other malignancies in both men and women. Specifically, BRCA1 mutations in women are linked to a heightened risk of early-onset breast cancer, as well as cervical, ovarian, uterine, pancreatic, and colon cancers. In men, BRCA1 mutations can elevate the risk of breast cancer and, to a lesser extent, pancreatic and testicular cancers. Similarly, mutations in the BRCA2 gene in women are associated with increased risks for pancreatic, stomach, gallbladder, bile duct cancers, and melanoma, while men with BRCA2 mutations face a higher incidence of breast, pancreatic, and prostate cancers. The procedure described by CPT® Code 81211 involves a comprehensive full sequence analysis of both BRCA1 and BRCA2 genes, along with the examination of common duplication and deletion variants specifically in the BRCA1 gene. This full sequence analysis is a meticulous process that compares segments of the genes to identify similarities and differences, thereby elucidating their relationships. It involves studying intrinsic features to locate active sites for post-translational modifications, 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 (SNPs). A normal gene typically has two copies 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. The most frequently observed variants in the BRCA1 gene include exon 13 deletion of 3.835kb, exon 13 duplication of 6kb, exon 14-20 deletion of 26kb, exon 22 deletion of 510bp, and exon 8-9 deletion of 7.1kb.

1. Indications

The procedure associated with CPT® Code 81211 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 and circumstances warrant the performance of this genetic analysis:

Family History of Breast Cancer Individuals with a family history of breast cancer, particularly those with multiple affected relatives, may be candidates for this testing.
Family History of Ovarian Cancer Women with a family history of ovarian cancer are also indicated for this genetic testing, as BRCA mutations significantly increase the risk of developing this type of cancer.
Personal History of Breast or Ovarian Cancer Patients who have been diagnosed with breast or ovarian cancer, especially at a young age, may be tested to determine if a hereditary mutation is present.
Male Breast Cancer Men diagnosed with breast cancer may also be tested for BRCA mutations, as these mutations can increase their risk of developing breast cancer.
Ethnic Background Individuals of Ashkenazi Jewish descent are at a higher risk for specific BRCA mutations and may be recommended for testing based on their ethnic background.

2. Procedure

The procedure for CPT® Code 81211 involves several critical steps to ensure a comprehensive analysis of the BRCA1 and BRCA2 genes. The following procedural steps are undertaken:

Step 1: Sample Collection A biological sample, typically blood or saliva, is collected from the patient. This sample serves as the source of DNA for the genetic analysis.
Step 2: DNA Extraction The DNA is extracted from the collected sample using laboratory techniques that isolate the genetic material for further analysis.
Step 3: Full Sequence Analysis A full sequence analysis of the BRCA1 and BRCA2 genes is performed. This involves comparing the gene segments to identify any mutations or variations that may be present.
Step 4: Duplication and Deletion Variant Analysis The analysis includes a specific focus on common duplication and deletion variants within the BRCA1 gene. This step is crucial for identifying significant genetic alterations that could impact cancer risk.
Step 5: Data Interpretation The results of the genetic analysis are interpreted by qualified professionals, who assess the presence of mutations and their potential implications for the patient’s health.

3. Post-Procedure

After the completion of the genetic testing associated with CPT® Code 81211, patients may receive counseling regarding the results. This counseling is essential for understanding the implications of any identified mutations, including the associated risks for breast and ovarian cancer. Patients may also be advised on potential preventive measures, surveillance strategies, and treatment options based on their genetic findings. Follow-up appointments may be scheduled to discuss the results in detail and to provide support for any necessary lifestyle or medical changes. Additionally, healthcare providers may recommend genetic counseling for family members to assess their risk and consider testing if appropriate.

Short Descr	BRCA1&2 SEQ & COM DUP/DEL
Medium Descr	BRCA1&BRCA2 FULL SEQ ANALYS/COMM DUP/DEL BRCA
Long Descr	BRCA1, BRCA2 (breast cancer 1 and 2) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants in BRCA1 (ie, exon 13 del 3.835kb, exon 13 dup 6kb, exon 14-20 del 26kb, exon 22 del 510bp, exon 8-9 del 7.1kb)
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
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	Not applicable/unspecified.
CCS Clinical Classification	234 - Pathology