How To Use CPT Code 0101U

CPT 0101U describes a genomic sequence analysis panel used to identify hereditary colon cancer disorders. This article will cover the official description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples of CPT code 0101U.

1. What is CPT Code 0101U?

CPT 0101U is a specific code used to describe a genomic sequence analysis panel for hereditary colon cancer disorders. This test utilizes a combination of next-generation sequencing (NGS), Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and array comparative genomic hybridization (CGH) techniques. The analysis also includes mRNA analytics to resolve variants of unknown significance when necessary. The panel evaluates 15 genes through sequencing and deletion/duplication analysis, as well as EPCAM and GREM1 genes through deletion/duplication analysis only.

2. Official Description

The official description of CPT code 0101U is: ‘Hereditary colon cancer disorders (eg, Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, familial adenomatosis polyposis), 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 (15 genes [sequencing and deletion/duplication], EPCAM and GREM1 [deletion/duplication only]).’

3. Procedure

1. The laboratory analyst performs a genomic sequence analysis panel using a patient specimen, typically blood.
2. The analysis involves determining the order of nucleotides in DNA and comparing the findings to a reference library of normal genomes and variant gene sequences for 15 genes associated with hereditary colon cancer disorders.
3. The first 15 genes are evaluated using next-generation sequencing (NGS) or Sanger sequencing.
4. Additional sequencing techniques, such as MLPA and array CGH with mRNA analytics, are employed to resolve variants of unknown significance when indicated.
5. If deletions are detected in certain exons, double-stranded sequencing is performed.
6. The EPCAM and GREM1 genes are analyzed only for deletions and duplications, not sequencing.

4. Qualifying circumstances

CPT code 0101U is used for patients with hereditary colon cancer disorders, including Lynch syndrome, PTEN hamartoma syndrome, Cowden syndrome, and familial adenomatosis polyposis. These disorders can lead to the development of cancerous lesions if left untreated. The test is ordered by clinicians to guide medical management or determine the need for earlier or more frequent colonoscopies in these patients. The analysis is performed on germline or neoplastic specimens, such as blood, to identify genetic changes associated with these disorders.

5. When to use CPT code 0101U

CPT code 0101U should be used when ordering the ColoNext® test from Ambry Genetics®. This proprietary test specifically analyzes 17 genes associated with hereditary colon cancer disorders. It should not be reported with any other CPT code, and only one unit of this code should be reported for a single specimen analyzed on a single date of service.

6. Documentation requirements

To support a claim for CPT code 0101U, the following documentation is required:

• Patient’s diagnosis of a hereditary colon cancer disorder
• Specific details of the genomic sequence analysis panel performed, including the genes analyzed and the techniques used (NGS, Sanger sequencing, MLPA, array CGH)
• Date of service and the specimen analyzed
• Results of the analysis, including any variants of unknown significance resolved through mRNA analytics
• Signature of the laboratory analyst performing the analysis

7. Billing guidelines

When billing for CPT code 0101U, ensure that the test is performed by the appropriate laboratory and for the specific proprietary test, such as the ColoNext® test from Ambry Genetics®. It should not be reported 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 0101U is a Proprietary Laboratory Analyses (PLA) code, which means it applies to a unique lab test offered by a specific manufacturer or laboratory. It was added to the CPT code set to identify the ColoNext® test from Ambry Genetics®, which is a genomic sequencing analysis panel for 17 genes associated with hereditary colon cancer disorders. There have been no updates to the code since its addition.

9. Examples

1. A patient with a family history of Lynch syndrome undergoes the ColoNext® test to determine their genetic risk for developing hereditary colon cancer.
2. A clinician orders the genomic sequence analysis panel for a patient with Cowden syndrome to guide their medical management and surveillance for colon cancer.
3. A patient with familial adenomatous polyposis undergoes the ColoNext® test to assess their risk for developing cancerous lesions in the colon and rectum.
4. A patient with PTEN hamartoma syndrome undergoes the genomic sequence analysis panel to identify any genetic changes associated with the disorder and guide their medical management.
5. A clinician orders the ColoNext® test for a patient with a suspected hereditary colon cancer disorder to confirm the diagnosis and determine the appropriate surveillance and treatment plan.