CPT® Code 81214

Code deleted, see 81165, 81166

Official Description

BRCA1 (breast cancer 1) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants (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 81214 pertains to the molecular genetic testing of the BRCA1 gene, which is crucial in assessing the risk of hereditary breast and ovarian cancer. The BRCA1 gene, located on chromosome 17, encodes the breast cancer type 1 susceptibility protein, a key player in the DNA repair process. When mutations occur in this gene, the protein's ability to repair or eliminate damaged DNA is compromised, potentially leading to an increased risk of developing breast cancer, ovarian cancer, or fallopian tube cancer at any age. The procedure described by this code involves a comprehensive analysis of the BRCA1 gene, including a full sequence analysis and the examination of common duplication and deletion variants. The full sequence analysis is a detailed comparison of gene segments to identify any variations that may exist, which can include point mutations or single nucleotide polymorphisms (SNPs). This analysis also investigates the gene's intrinsic features, such as active sites for post-translational modifications, gene structures, and the distribution of introns and exons. A normal BRCA1 gene typically has two copies per cell, except for sex chromosomes, while the presence of zero or one copy indicates a deletion variant, and three or more copies suggest a duplication variant. Furthermore, the testing is particularly beneficial for families with a history of breast and ovarian cancers, as it can help identify specific mutations and familial variants, thereby informing risk assessments for relatives who may also carry these genetic mutations.

1. Indications

The molecular genetic testing for the BRCA1 gene analysis (CPT® Code 81214) 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 this 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 identify potential genetic predispositions.
Family History of Ovarian Cancer Testing is also indicated for those with a family history of ovarian cancer, as mutations in the BRCA1 gene can significantly increase the risk of developing this type of cancer.
Known Familial Variants Individuals who have relatives with known BRCA1 mutations may undergo testing to determine if they carry the same genetic variant.
Personal History of Breast or Ovarian Cancer Patients with a personal history of breast or ovarian cancer may be tested to assess the presence of BRCA1 mutations that could inform treatment options and risk management strategies.

2. Procedure

The procedure for CPT® Code 81214 involves several critical steps to ensure a comprehensive analysis of the BRCA1 gene:

Step 1: Sample Collection A biological sample, typically blood or saliva, is collected from the patient. This sample contains the DNA necessary for 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 gene is performed. This involves comparing the gene segments to identify any mutations or variations in the DNA sequence that may indicate a predisposition to cancer.
Step 4: Duplication/Deletion Variant Analysis In addition to the full sequence analysis, the laboratory examines common duplication and deletion variants associated with the BRCA1 gene. This step is crucial for identifying specific genetic alterations that may not be evident in the full sequence analysis alone.
Step 5: Data Interpretation The results of the analyses are interpreted by genetic specialists who assess the significance of any identified mutations or variants. This interpretation is essential for determining the implications for the patient and their family members.
Step 6: Reporting Results Finally, a comprehensive report is generated, detailing the findings of the genetic analysis. This report is provided to the healthcare provider, who will discuss the results with the patient and recommend any necessary follow-up actions.

3. Post-Procedure

After the BRCA1 gene analysis is completed, patients may receive counseling regarding the results. If a mutation is identified, genetic counseling is recommended to discuss the implications for the patient and their family members. This may include information on increased cancer risk, screening recommendations, and potential preventive measures. Additionally, patients may be advised on the importance of sharing their genetic information with family members, as it can impact their health decisions. Follow-up appointments may be scheduled to address any questions or concerns regarding the results and to discuss further management options based on the findings.

Short Descr	BRCA1 FULL SEQ & COM DUP/DEL
Medium Descr	BRCA1 FULL SEQ ANAL&COMMON DUP/DEL VARIANTS
Long Descr	BRCA1 (breast cancer 1) (eg, hereditary breast and ovarian cancer) gene analysis; full sequence analysis and common duplication/deletion variants (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