How To Use CPT Code 0129U

CPT 0129U describes the genomic sequence analysis and deletion/duplication analysis panel for hereditary breast cancer-related disorders. This article will cover the description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples.

1. What is CPT Code 0129U?

CPT 0129U can be used to describe the genomic sequence analysis and deletion/duplication analysis panel for hereditary breast cancer-related disorders. This code is used for a specific proprietary laboratory test called BRCAplus™, which analyzes the genomic sequences of 8 genes associated with hereditary breast cancer-related disorders.

2. Official Description

The official description of CPT code 0129U is: ‘Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis and deletion/duplication analysis panel (ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, and TP53)’

3. Procedure

1. The lab analyst performs a genomic sequencing analysis panel using specialized equipment such as a next-generation gene sequencer.
2. The analysis includes the evaluation of 8 genes associated with hereditary breast cancer-related disorders: ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, and TP53.
3. The genomic sequencing analysis can be done using next-generation sequencing (NGS) or Sanger sequencing of all coding domains.
4. Additional Sanger sequencing may be performed to resolve variants of unknown significance.
5. The analysis also includes deletion/duplication analysis to identify gross deletions and duplications in the genes.
6. The test may involve the use of a targeted microarray to analyze gene copy number.

4. Qualifying circumstances

CPT 0129U is used for patients who are suspected to have hereditary breast cancer-related disorders. The test is ordered by clinicians to determine if a patient has a genetic predisposition to hereditary breast, ovarian, or endometrial cancer. The test analyzes the genomic sequences of 8 genes associated with these disorders: ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, and TP53.

5. When to use CPT code 0129U

CPT code 0129U should be used when the BRCAplus™ test from Ambry Genetics is performed. This test analyzes the genomic sequences of 8 genes associated with hereditary breast cancer-related disorders. It is used to identify patients with a genetic predisposition to these disorders, allowing for modified screening practices and tailored treatment.

6. Documentation requirements

To support a claim for CPT code 0129U, the following documentation is required:

• Order for the BRCAplus™ test
• Documentation of the patient’s suspected hereditary breast cancer-related disorder
• Results of the genomic sequence analysis and deletion/duplication analysis panel
• Identification of the 8 genes analyzed: ATM, BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, and TP53
• Any additional findings or variants of unknown significance
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT code 0129U, ensure that the test performed is the BRCAplus™ test from Ambry Genetics. Report one unit of this code for a single specimen analyzed on a single date of service. It is important to note that this is a proprietary laboratory analysis (PLA) code, and it should not be reported with any other CPT code. Some payers may separately reimburse for the collection of the specimen, so it is advisable to check with the appropriate payer.

8. Historical information

CPT code 0129U, specifically for the BRCAplus™ test, was added to the Current Procedural Terminology system on October 1, 2019. There have been no updates to the code since its addition.

9. Examples

1. A patient with a family history of breast cancer undergoes the BRCAplus™ test to determine if they have a genetic predisposition to hereditary breast cancer-related disorders.
2. A clinician orders the BRCAplus™ test for a patient with suspected hereditary ovarian cancer to guide screening and treatment decisions.
3. A patient with a personal history of endometrial cancer undergoes the BRCAplus™ test to assess their genetic risk for hereditary endometrial cancer.
4. A patient with a family history of multiple cancers undergoes the BRCAplus™ test to identify if they have a genetic predisposition to any hereditary breast cancer-related disorders.
5. A clinician orders the BRCAplus™ test for a patient with a known BRCA1 variant to assess their risk for other hereditary breast cancer-related disorders.
6. A patient with a family history of breast cancer and a known TP53 variant undergoes the BRCAplus™ test to evaluate their risk for other hereditary breast cancer-related disorders.
7. A clinician orders the BRCAplus™ test for a patient with a personal history of breast cancer to guide treatment decisions and assess their genetic risk for other hereditary breast cancer-related disorders.
8. A patient with a family history of breast cancer and a known PALB2 variant undergoes the BRCAplus™ test to evaluate their risk for other hereditary breast cancer-related disorders.
9. A clinician orders the BRCAplus™ test for a patient with a personal history of ovarian cancer to assess their genetic risk for other hereditary breast cancer-related disorders.
10. A patient with a family history of breast cancer and a known CHEK2 variant undergoes the BRCAplus™ test to evaluate their risk for other hereditary breast cancer-related disorders.