How To Use CPT Code 81242

CPT 81242 describes the analysis of the FANCC gene to detect common variants associated with Fanconi anemia, complementation group C. This article will cover the description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, similar codes and billing examples.

1. What is CPT Code 81242?

CPT 81242 can be used to analyze the FANCC gene for the presence of common variants associated with Fanconi anemia, complementation group C. This code is used to identify specific changes in the gene, such as the IVS4+4A>T variant, which may indicate a higher risk of developing Fanconi anemia.

2. Official Description

The official description of CPT code 81242 is: ‘FANCC (Fanconi anemia, complementation group C) gene analysis, common variant (eg, IVS4+4A>T).’ This code represents the laboratory test performed to detect common variants in the FANCC gene, including the IVS4+4A>T variant.

3. Procedure

1. The lab analyst performs various technical steps to analyze the FANCC gene, including extracting nucleic acids, amplifying the DNA, and detecting target genes using nucleic acid probes.

4. Qualifying circumstances

CPT 81242 is commonly ordered by clinicians to aid in the diagnosis of suspected Fanconi anemia, particularly in patients of Ashkenazi Jewish descent, where the IVS4+4A>T variant is more prevalent. This test can also be used to identify carriers of the mutation.

5. When to use CPT code 81242

CPT code 81242 should be used when there is a clinical suspicion of Fanconi anemia or when there is a need to identify carriers of the IVS4+4A>T variant. It is important to note that this code is specific to the analysis of the FANCC gene and should not be used for other genetic analyses.

6. Documentation requirements

To support a claim for CPT 81242, documentation should include the reason for ordering the test, the specific variant being analyzed (such as IVS4+4A>T), and the interpretation of the test results. If a physician provides an interpretation of the test, it can be separately reported using modifier 26.

7. Billing guidelines

When billing for CPT 81242, ensure that the test is performed for the analysis of the FANCC gene and the specific variant, such as IVS4+4A>T. It is important to follow the guidelines of the payer regarding the reporting of interpretation by a physician. Additionally, consider reporting any prep work that precedes the lab test, such as tissue selection or microdissection, using the appropriate CPT codes.

8. Historical information

CPT 81242 was added to the Current Procedural Terminology system on January 1, 2012. There have been no updates to the code since its addition.

9. Examples

1. A patient of Ashkenazi Jewish descent undergoes CPT 81242 analysis to determine if they carry the IVS4+4A>T variant associated with Fanconi anemia.
2. A clinician orders CPT 81242 for a patient with suspected Fanconi anemia to confirm the presence of the IVS4+4A>T variant.
3. A family undergoes genetic testing, including CPT 81242, to identify carriers of the IVS4+4A>T variant and assess the risk of Fanconi anemia in future generations.
4. A patient with symptoms suggestive of Fanconi anemia undergoes CPT 81242 analysis to aid in the diagnosis and guide further management.
5. A research study includes CPT 81242 analysis to investigate the prevalence of the IVS4+4A>T variant in a specific population.
6. A patient with a family history of Fanconi anemia undergoes CPT 81242 analysis to determine if they carry the IVS4+4A>T variant and assess their risk of developing the condition.
7. A clinician orders CPT 81242 for a patient with unexplained bone marrow dysfunction to investigate the possibility of Fanconi anemia.
8. A couple planning to start a family undergoes CPT 81242 analysis to assess their risk of having a child with Fanconi anemia.
9. A patient with physical abnormalities suggestive of Fanconi anemia undergoes CPT 81242 analysis to confirm the presence of the IVS4+4A>T variant.
10. A clinician orders CPT 81242 for a patient with a suspected genetic disorder to rule out the presence of the IVS4+4A>T variant associated with Fanconi anemia.