CPT® Code 81308

Official Description

PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) gene analysis; known familial variant

Common Language Description

The CPT® Code 81308 pertains to the molecular genetic testing of the PALB2 gene, specifically focusing on the analysis of known familial variants. The PALB2 gene, which stands for partner and localizer of BRCA2, is located on the short (p) arm of chromosome 16 at position 12.2 (16p12.2). This gene plays a crucial role in the cellular mechanisms of DNA repair by encoding a protein that interacts with the BRCA2 gene, as well as potentially with other genes such as BRC3, BRC4, and RAD51. Mutations that result in the loss of function of the PALB2 gene have been associated with an elevated risk of developing certain cancers, including breast cancer in both males and females, pancreatic cancer, and conditions such as Fanconi anemia. These mutations can occur across diverse ethnic and racial groups, highlighting the importance of genetic testing in identifying individuals at risk. The analysis of the PALB2 gene, which can include full gene sequencing and the examination of known familial variants, is essential for confirming a hereditary predisposition to cancer, guiding treatment decisions, and identifying family members who may also be at risk. Specimens for this testing can be obtained from various sources, including whole blood, saliva, buccal cells, cultured cells, or extracted DNA, which are collected through separate procedures. The testing process may involve advanced techniques such as next-generation sequencing (NGS) and polymerase chain reaction (PCR) to analyze the entire coding regions of the gene, as well as methods like multiple ligation-dependent probe amplification (MLPA) to detect larger deletion or duplication mutations. When focusing on a known familial variant, the analysis specifically targets the mutation(s) previously identified in a family member, utilizing methods such as PCR followed by DNA sequencing or gene dosage analysis through array comparative genomic hybridization (aCGH) or MLPA.

1. Indications

The PALB2 gene analysis (CPT® Code 81308) is indicated for individuals who have a known familial variant associated with an increased risk of certain cancers. The following conditions and scenarios warrant this genetic testing:

Breast Cancer Risk Individuals with a family history of breast cancer, particularly those with mutations in the PALB2 gene, may benefit from this analysis to assess their risk.
Pancreatic Cancer Risk Testing is also indicated for individuals with a family history of pancreatic cancer, as PALB2 mutations have been linked to this condition.
Fanconi Anemia Individuals diagnosed with Fanconi anemia or those with a family history of this genetic disorder may require PALB2 gene analysis to determine if a familial variant is present.
Family Member Testing Relatives of individuals who have already been identified with a PALB2 mutation may undergo testing to determine if they carry the same mutation, which can inform their cancer risk and management strategies.

2. Procedure

The procedure for conducting the PALB2 gene analysis involves several key steps to ensure accurate identification of known familial variants:

Specimen Collection The first step involves obtaining a biological specimen from the patient. This can be done using whole blood, saliva, buccal cells, cultured cells, or extracted DNA. The choice of specimen type may depend on the specific testing requirements and the patient's circumstances.
DNA Extraction Once the specimen is collected, DNA is extracted from the sample. This process is crucial as it isolates the genetic material needed for further analysis.
Testing Method Selection For known familial variant testing, specific methods are employed to analyze the PALB2 gene. This may include polymerase chain reaction (PCR) followed by DNA sequencing to identify the presence of the familial mutation. Alternatively, gene dosage analysis may be performed using array comparative genomic hybridization (aCGH) or multiple ligation-dependent probe amplification (MLPA) to detect larger deletions or duplications in the gene.
Data Analysis After the testing is completed, the results are analyzed to determine if the known familial variant is present in the patient's DNA. This analysis is critical for assessing the hereditary risk of cancer.
Reporting Results Finally, the results of the genetic analysis are compiled into a report, which is then communicated to the healthcare provider. This report will detail whether the known familial variant was detected and may include recommendations for further action or monitoring based on the findings.

3. Post-Procedure

Post-procedure care following PALB2 gene analysis primarily involves the interpretation of results and subsequent counseling. Patients may require genetic counseling to understand the implications of their test results, especially if a known familial variant is identified. This counseling can help patients and their families make informed decisions regarding cancer screening, prevention strategies, and potential treatment options. Additionally, healthcare providers may recommend follow-up testing for at-risk family members based on the results. It is important for patients to discuss any concerns or questions with their healthcare provider to ensure they receive appropriate support and guidance following the genetic testing.

Short Descr	PALB2 GENE KNOWN FAMIL VRNT
Medium Descr	PALB2 GENE ANALYSIS KNOWN FAMILIAL VARIANT
Long Descr	PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic 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)	none
MUE	1