How To Use CPT Code 0102U

CPT 0102U describes the genomic sequence analysis panel for hereditary breast cancer-related disorders. This article will cover the description, official details, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples.

1. What is CPT Code 0102U?

CPT 0102U can be used to describe the genomic sequence analysis panel for hereditary breast cancer-related disorders. This code is used when a combination of NGS, Sanger sequencing, MLPA, and array CGH is utilized to analyze 17 genes associated with these disorders. The test also includes mRNA analytics to resolve variants of unknown significance when necessary.

2. Official Description

The official description of CPT code 0102U is: ‘Hereditary breast cancer-related disorders (eg, hereditary breast cancer, hereditary ovarian cancer, hereditary endometrial cancer), genomic sequence analysis panel utilizing a combination of NGS, Sanger, MLPA, and array CGH, with mRNA analytics to resolve variants of unknown significance when indicated (17 genes [sequencing and deletion/duplication]).’

3. Procedure

1. The lab analyst performs a genomic sequencing analysis panel using a patient specimen, such as blood, to determine the order of nucleotides in DNA.
2. The analysis compares the findings to a reference library of normal genomes and variant gene sequences for the 17 genes associated with hereditary breast cancer-related disorders.
3. All 17 genes are evaluated using next-generation sequencing (NGS) or Sanger sequencing of all coding domains.
4. NGS is used to detect the BRCA2 Portuguese founder mutation, which is confirmed by PCR and agarose gel electrophoresis.
5. Additional Sanger sequencing, MLPA, and array CGH with mRNA analytics are performed to resolve variants of unknown significance when indicated.

4. Qualifying circumstances

Patients eligible for CPT 0102U are those with hereditary breast cancer-related disorders, such as hereditary breast cancer, hereditary ovarian cancer, and hereditary endometrial cancer. The test is ordered by clinicians to guide medical management and determine the need for further diagnostic procedures. The analysis evaluates 17 genes associated with these disorders using a combination of NGS, Sanger sequencing, MLPA, and array CGH, with mRNA analytics to resolve variants of unknown significance.

5. When to use CPT code 0102U

CPT code 0102U should be used when a genomic sequence analysis panel is performed for hereditary breast cancer-related disorders. It should not be reported with any other CPT code. This code is specific to the BreastNext® test from Ambry Genetics®, and one unit should be reported for a single specimen analyzed on a single date of service.

6. Documentation requirements

To support a claim for CPT 0102U, the documentation should include:

• Patient’s clinical indication for the test
• Details of the genomic sequence analysis panel performed
• Date of service and specimen analyzed
• Results and interpretation of the analysis
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT 0102U, ensure that the test is performed by the appropriate lab and for the specific proprietary test, such as the BreastNext® test from Ambry Genetics®. Do not report this test with any other CPT code. Some payers may separately reimburse for specimen collection, so it is important to check with the appropriate payer for their specific guidelines.

8. Historical information

CPT code 0102U is a Proprietary Laboratory Analyses (PLA) code that was added to the CPT code set. It is specific to the BreastNext® test from Ambry Genetics®. No updates have been made to the code since its addition.

9. Examples

1. A patient with a family history of breast cancer undergoes the BreastNext® test to determine their risk of hereditary breast cancer.
2. A clinician orders the genomic sequence analysis panel for a patient with suspected hereditary ovarian cancer to guide further diagnostic procedures.
3. A patient with a personal history of endometrial cancer undergoes the test to assess their risk of hereditary endometrial cancer.
4. A patient with a known BRCA1 mutation undergoes the analysis to assess for additional variants of unknown significance in other genes associated with hereditary breast cancer-related disorders.
5. A patient with a family history of multiple cancers undergoes the test to evaluate their risk of hereditary breast cancer, hereditary ovarian cancer, and hereditary endometrial cancer.
6. A clinician orders the genomic sequence analysis panel for a patient with a suspicious breast mass to determine if it is associated with hereditary breast cancer-related disorders.
7. A patient with a personal history of ovarian cancer undergoes the test to assess their risk of hereditary breast cancer and hereditary endometrial cancer.
8. A patient with a family history of breast cancer and a variant of unknown significance in the BRCA1 gene undergoes the analysis to further characterize the variant and assess for additional variants in other genes.
9. A clinician orders the genomic sequence analysis panel for a patient with a strong family history of endometrial cancer to evaluate their risk of hereditary endometrial cancer.
10. A patient with a personal history of breast cancer undergoes the test to assess their risk of hereditary ovarian cancer and hereditary endometrial cancer.