CPT® Code 81307

Official Description

PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) gene analysis; full gene sequence

Common Language Description

The CPT® Code 81307 pertains to the molecular genetic testing of the PALB2 gene, which is crucial for understanding certain hereditary cancer risks. The PALB2 gene, located on the short (p) arm of chromosome 16 at position 12.2 (16p12.2), encodes a protein that interacts with the BRCA2 gene, as well as potentially with other genes such as BRC3, BRC4, and RAD51. Mutations that lead to the loss of function of the PALB2 gene have been associated with an elevated risk of developing breast cancer in both males and females, as well as pancreatic cancer and Fanconi anemia. These mutations can occur across diverse ethnic and racial groups, highlighting the importance of genetic testing in various populations. The analysis of the PALB2 gene, which includes full gene sequencing and the identification of known familial variants, serves multiple purposes: it can confirm a hereditary predisposition to cancer, guide treatment decisions, and help identify family members who may also be at risk. The testing process typically involves obtaining samples from whole blood, saliva, buccal cells, cultured cells, or extracted DNA, which are collected through separate procedures. The full gene sequence analysis is conducted using advanced techniques such as next-generation sequencing (NGS) and polymerase chain reaction (PCR) to examine the entire coding regions of the gene. Additionally, methods like multiple ligation-dependent probe amplification (MLPA) may be employed to detect larger deletion or duplication mutations. For testing known familial variants, a specific site on the PALB2 gene is scrutinized for mutations previously identified in a family member, utilizing techniques such as PCR followed by DNA sequencing analysis or gene dosage analysis through array comparative genomic hybridization (aCGH) or MLPA.

1. Indications

The PALB2 gene analysis (CPT® Code 81307) is indicated for individuals who may have a hereditary predisposition to certain cancers. The specific indications for this genetic testing include:

Breast Cancer Risk Individuals with a family history of breast cancer may undergo testing to determine if they carry mutations in the PALB2 gene that increase their risk of developing the disease.
Pancreatic Cancer Risk Testing is also indicated for those with a family history of pancreatic cancer, as mutations in the PALB2 gene have been linked to this type of cancer.
Fanconi Anemia Individuals presenting with symptoms of Fanconi anemia, a genetic disorder that affects bone marrow and leads to decreased production of all types of blood cells, may be tested for PALB2 mutations.
Known Familial Variants Testing may be performed for individuals who have a family member with a previously identified PALB2 mutation, to assess their own risk and guide management.

2. Procedure

The procedure for conducting a full gene sequence analysis of the PALB2 gene involves several key steps:

Sample Collection The first step in the procedure is the collection of biological samples, which can include whole blood, saliva, buccal cells, cultured cells, or extracted DNA. This sample collection is performed through a separately reported procedure to ensure proper handling and processing of the specimens.
Next Generation Sequencing (NGS) Once the samples are collected, a full gene sequence analysis is performed using next-generation sequencing (NGS). This advanced technology allows for the comprehensive examination of the entire coding regions of the PALB2 gene, enabling the identification of both known and novel mutations.
Polymerase Chain Reaction (PCR) Following NGS, polymerase chain reaction (PCR) is utilized to amplify the DNA segments of interest, ensuring that there is sufficient material for analysis. PCR is a critical step that enhances the sensitivity and specificity of the testing process.
Multiple Ligation-Dependent Probe Amplification (MLPA) In addition to NGS and PCR, multiple ligation-dependent probe amplification (MLPA) may be employed to detect large deletion or duplication mutations within the PALB2 gene. This technique is particularly useful for identifying structural variations that may not be detected by sequencing alone.
Analysis of Known Familial Variants If the testing is aimed at identifying known familial variants, a specific site on the PALB2 gene is analyzed for mutations that have already been documented in another family member. This targeted approach may involve PCR followed by DNA sequencing analysis or gene dosage analysis using array comparative genomic hybridization (aCGH) or MLPA.

3. Post-Procedure

After the completion of the PALB2 gene analysis, the results are interpreted and reported to the healthcare provider. Patients may receive genetic counseling to discuss the implications of the findings, including the potential risks for themselves and their family members. It is important for individuals who test positive for PALB2 mutations to consider follow-up testing for at-risk relatives, as well as to explore appropriate surveillance and preventive measures based on their results. The expected recovery from the procedure itself is minimal, as the sample collection is non-invasive or minimally invasive, and patients can typically resume normal activities immediately following the sample collection. However, the emotional and psychological impact of receiving genetic test results should be addressed through supportive counseling and education.

Short Descr	PALB2 GENE FULL GENE SEQ
Medium Descr	PALB2 GENE ANALYSIS FULL GENE SEQUENCE
Long Descr	PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) gene analysis; full gene sequence
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

This is a primary code that can be used with these additional add-on codes.

0137U

Add-on Code APC A PALB2 (partner and localizer of BRCA2) (eg, breast and pancreatic cancer) mRNA sequence analysis (List separately in addition to code for primary procedure)

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.
XU	Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
59	Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25.
XS	Separate structure, a service that is distinct because it was performed on a separate organ/structure
GW	Service not related to the hospice patient's terminal condition
GV	Attending physician not employed or paid under arrangement by the patient's hospice provider
GZ	Item or service expected to be denied as not reasonable and necessary