CPT® Code 81212

Official Description

BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT variants

Common Language Description

Molecular genetic testing is a critical procedure used to identify specific mutations in the BRCA1 and BRCA2 genes, which are essential for maintaining genomic stability. 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 facilitating the error-free 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 these mutations is notably higher in specific populations, including those of Norwegian, Dutch, Icelandic, and Ashkenazi Jewish descent. Genetic testing for these mutations is crucial as it can help identify hereditary cancer syndromes, guide appropriate treatment options, and inform family members who may also be at risk. The analysis performed under CPT® Code 81212 specifically targets three well-documented variants: 185delAG and 5385insC on the BRCA1 gene, and 6174delT on the BRCA2 gene. These variants, while not exclusive to the Ashkenazi Jewish population, are found with increased frequency among individuals of this heritage. The testing process typically involves the analysis of whole blood or buccal cells, and it may include a comprehensive examination of gene sequences to identify point mutations or single nucleotide polymorphisms, as well as larger gene rearrangements.

1. Indications

The molecular genetic testing described by CPT® Code 81212 is indicated for the following conditions:

Hereditary Breast and Ovarian Cancer Syndrome - Testing is performed to identify mutations in the BRCA1 and BRCA2 genes that are associated with an increased risk of developing breast and ovarian cancers.
Family History of Breast or Ovarian Cancer - Individuals with a family history of these cancers may be tested to determine if they carry specific mutations that increase their risk.
Ethnic Background - Testing is particularly relevant for individuals of Ashkenazi Jewish descent, as certain mutations are more prevalent in this population.

2. Procedure

The procedure for CPT® Code 81212 involves several key steps to ensure accurate identification of specific gene variants:

Sample Collection - A sample is obtained from the patient, typically through whole blood or buccal cells, which serves as the source of DNA for analysis.
DNA Extraction - The DNA is extracted from the collected sample, isolating the genetic material necessary for testing.
Targeted Variant Analysis - The analysis specifically focuses on three known variants: 185delAG and 5385insC on the BRCA1 gene, and 6174delT on the BRCA2 gene. This involves using techniques such as polymerase chain reaction (PCR) to amplify the regions of interest in the DNA.
Sequencing and Detection - The amplified DNA is sequenced to detect the presence of the specified variants. This step is crucial for confirming whether the mutations are present in the patient's genetic material.
Result Interpretation - The results are interpreted by a qualified geneticist or genetic counselor, who will assess the presence of the variants and their implications for the patient's health and risk of cancer.

3. Post-Procedure

After the procedure, patients may receive genetic counseling to discuss the results of the testing. If mutations are identified, the implications for the patient's health, potential preventive measures, and options for family testing will be addressed. It is important for patients to understand the significance of their results, including the potential for increased cancer risk and the options available for monitoring and management. Follow-up care may include regular screenings or preventive surgeries, depending on the findings and the patient's personal and family medical history.

Short Descr	BRCA1&2 185&5385&6174 VRNT
Medium Descr	BRCA1 BRCA 2 GEN ALYS 185DELAG 5385INSC 6174DELT
Long Descr	BRCA1 (BRCA1, DNA repair associated), BRCA2 (BRCA2, DNA repair associated) (eg, hereditary breast and ovarian cancer) gene analysis; 185delAG, 5385insC, 6174delT 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
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

GA	Waiver of liability statement issued as required by payer policy, individual case
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.