How To Use CPT Code 81251

CPT 81251 describes the genetic analysis procedure for the GBA (glucosidase, beta, acid) gene, specifically targeting common variants associated with conditions such as Gaucher disease. 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 81251?

CPT 81251 can be used to describe the genetic analysis procedure for the GBA gene, focusing on the detection of common variants. This code is utilized when the lab analyst performs the technical steps involved in analyzing the gene, including nucleic acid extraction, amplification, and target gene detection using methods such as nucleic acid probes.

2. Official Description

The official description of CPT code 81251 is: ‘GBA (glucosidase, beta, acid) (eg, Gaucher disease) gene analysis, common variants (eg, N370S, 84GG, L444P, IVS2+1G>A).’

3. Procedure

1. The lab analyst performs technical steps, such as nucleic acid extraction, amplification, and target gene detection, to analyze the GBA gene for common variants.

4. Qualifying circumstances

CPT 81251 is typically ordered by clinicians to confirm the diagnosis of Gaucher disease, a condition caused by mutations in the GBA gene. This test is commonly performed on individuals of Ashkenazi Jewish descent, as GBA mutations are more prevalent in this population. It may also be ordered for prenatal or pre-pregnancy testing to determine carrier status.

5. When to use CPT code 81251

CPT code 81251 should be used when performing a genetic analysis of the GBA gene to detect common variants associated with conditions such as Gaucher disease. It is important to note that this code is not limited to testing for a specific condition and can be used for other genetic analyses of the GBA gene.

6. Documentation requirements

To support a claim for CPT 81251, documentation should include:

• Reason for ordering the test, such as suspected Gaucher disease or carrier status determination
• Details of the technical steps performed, including nucleic acid extraction, amplification, and target gene detection
• Results of the analysis, specifically identifying the presence or absence of common variants
• Signature of the lab analyst performing the procedure

7. Billing guidelines

When billing for CPT 81251, ensure that the procedure is performed by a qualified lab analyst. It is important to follow the specific guidelines provided by payers regarding the reporting of this code. Additionally, if the ordering clinician requests physician interpretation of the test and the pathologist provides an interpretation and report, an additional code may be reported for the interpretation.

8. Historical information

CPT 81251 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 lab analyst performing a genetic analysis of the GBA gene to detect common variants associated with Gaucher disease.
2. A clinician ordering CPT 81251 to confirm the diagnosis of Gaucher disease in a patient of Ashkenazi Jewish descent.
3. A lab conducting prenatal testing to determine the carrier status of the GBA gene using CPT 81251.
4. A pathologist providing an interpretation and report for the genetic analysis of the GBA gene using CPT 81251 and reporting an additional code for the interpretation.
5. A lab analyst performing a genetic analysis of the GBA gene to detect common variants in a patient with symptoms suggestive of Gaucher disease.
6. A clinician ordering CPT 81251 to assess the carrier status of the GBA gene in a couple planning for pregnancy.
7. A lab conducting genetic analysis of the GBA gene to identify common variants associated with Gaucher disease in a research study.
8. A pathologist interpreting the results of the genetic analysis of the GBA gene using CPT 81251 and providing a detailed report to the ordering clinician.
9. A lab analyst performing a genetic analysis of the GBA gene to detect common variants in a patient with a family history of Gaucher disease.
10. A clinician ordering CPT 81251 to determine the carrier status of the GBA gene in an individual considering reproductive options.