CPT® Code 81213

Official Description

uncommon duplication/deletion variants

Common Language Description

Molecular genetic testing, specifically CPT® Code 81213, is utilized to identify uncommon duplication and deletion variants in the BRCA1 and BRCA2 genes. These genes, located on chromosome 17 and chromosome 13 respectively, are critical tumor suppressors that play 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 hereditary increased risk of developing breast cancer and other types of cancers in both men and women. For instance, mutations in the BRCA1 gene in women are linked to a heightened risk of early-onset breast cancer, as well as an increased likelihood of cervical, ovarian, uterine, pancreatic, and colon cancers. In men, BRCA1 mutations elevate the risk of breast cancer and, to a lesser extent, pancreatic and testicular cancers. Similarly, BRCA2 mutations in women are associated with a higher risk of pancreatic, stomach, gallbladder, bile duct cancers, and melanoma, while men with BRCA2 mutations face increased risks for breast, pancreatic, and prostate cancers. The testing process involves a comprehensive analysis of the BRCA1 and BRCA2 genes to detect specific mutations, including those that may be classified as variants of uncertain significance (VUS). These VUS may include missense mutations or potential splice site alterations that are often more prevalent in certain ethnic or minority populations. It is noteworthy that approximately half of the uncommon mutations identified in the BRCA1 and BRCA2 genes lack established clinical significance, underscoring the complexity of genetic testing in this area. The identification of these variants is crucial for assessing cancer risk and guiding clinical decision-making for individuals who may carry these mutations.

1. Indications

The molecular genetic testing represented by CPT® Code 81213 is indicated for individuals who may be at risk for hereditary breast and ovarian cancer syndromes due to family history or other risk factors. The specific indications for this testing include:

Increased Cancer Risk: Individuals with a family history of breast, ovarian, pancreatic, or prostate cancer, particularly when these cancers occur at a young age or in multiple family members.
Known Family Mutation: Individuals who have a known BRCA1 or BRCA2 mutation in their family may undergo testing to determine if they also carry the mutation.
Ethnic Background: Individuals of Ashkenazi Jewish descent, who are at a higher risk for specific BRCA mutations, may be specifically tested for these variants.
Variants of Uncertain Significance: Testing may be indicated for individuals with identified uncommon duplication or deletion variants that require further evaluation to determine their clinical significance.

2. Procedure

The procedure for CPT® Code 81213 involves several key steps to accurately identify uncommon duplication and deletion variants in the BRCA1 and BRCA2 genes. The steps are as follows:

Sample Collection: A biological sample, typically blood or saliva, is collected from the patient to obtain DNA for analysis. This sample serves as the basis for the genetic testing process.
DNA Extraction: The DNA is extracted from the collected sample using laboratory techniques that isolate the genetic material for further analysis. This step is crucial for ensuring that the DNA is suitable for testing.
Genetic Analysis: The extracted DNA undergoes a detailed analysis to identify any uncommon duplication or deletion variants in the BRCA1 and BRCA2 genes. This may involve sequencing techniques that compare the patient's DNA to reference sequences to detect variations.
Variant Classification: Identified variants are classified based on their clinical significance. Variants may be categorized as pathogenic, likely pathogenic, benign, likely benign, or variants of uncertain significance (VUS), depending on the available evidence regarding their impact on cancer risk.
Reporting Results: The results of the genetic testing are compiled into a report that details the findings, including any identified variants and their classifications. This report is then provided to the healthcare provider for further discussion with the patient.

3. Post-Procedure

After the completion of the genetic testing procedure, patients may receive counseling to discuss the implications of the test results. This counseling is essential for understanding the potential risks associated with identified mutations, especially if variants of uncertain significance are found. Patients may also be advised on appropriate surveillance strategies, preventive measures, and potential treatment options based on their genetic risk profile. Follow-up appointments may be scheduled to review the results in detail and to address any questions or concerns the patient may have regarding their health and cancer risk management.

Short Descr	BRCA1&2 UNCOM DUP/DEL VAR
Medium Descr	BRCA1&BRCA2 ANAL UNCOMMON DUP/DEL VARIANTS
Long Descr	uncommon duplication/deletion variants
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