How To Use CPT Code 81250
CPT 81250 describes the analysis of the G6PC gene to detect specific changes associated with glucose-6-phosphatase, catalytic subunit. 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 81250?
CPT 81250 can be used to analyze the G6PC gene for specific changes related to glucose-6-phosphatase, catalytic subunit. This test is typically ordered for patients suspected of having glycogen storage disease type I (GSDI) or for carrier status testing. The code represents testing for common variants in the G6PC gene, such as R83C and Q347X, which are specific to GSD type Ia.
2. Official Description
The official description of CPT code 81250 is: ‘G6PC (glucose-6-phosphatase, catalytic subunit) (eg, Glycogen storage disease, type 1a, von Gierke disease) gene analysis, common variants (eg, R83C, Q347X)’
3. Procedure
- The lab analyst performs technical steps to analyze the G6PC gene, including extracting nucleic acids, amplifying the DNA, and detecting target genes using nucleic acid probes.
4. Qualifying circumstances
CPT 81250 is commonly ordered for patients suspected of having glycogen storage disease type I (GSDI) or for carrier status testing. The specific variants tested with this code are specific to GSD type Ia, which accounts for nearly 80 percent of GSDI cases.
5. When to use CPT code 81250
CPT code 81250 should be used when analyzing the G6PC gene for common variants associated with glycogen storage disease type I (GSDI). It is appropriate for patients suspected of having GSDI or for carrier status testing. This code should not be used for testing specific to other conditions or genes.
6. Documentation requirements
To support a claim for CPT 81250, documentation should include the reason for the test, the specific variants tested, and the interpretation of the results. If the ordering clinician separately requests physician interpretation, it can be reported with modifier 26. The interpretation must be performed by an MD or DO physician.
7. Billing guidelines
When billing for CPT 81250, ensure that the test is performed for the analysis of the G6PC gene and the detection of common variants. It should not be reported with other codes unless there is a separate request for physician interpretation. Additional genes associated with glycogen storage disease type I should be coded separately.
8. Historical information
CPT 81250 was added to the Current Procedural Terminology system on January 1, 2012. The code was later changed on January 1, 2014 to its current description.
9. Examples
- A patient suspected of having glycogen storage disease type I undergoes CPT 81250 to analyze the G6PC gene for common variants.
- A couple undergoes carrier status testing for glycogen storage disease type I using CPT 81250 to analyze the G6PC gene for common variants.
- A patient with symptoms suggestive of glycogen storage disease type Ia undergoes CPT 81250 to confirm the presence of specific variants in the G6PC gene.
- A newborn screening program includes CPT 81250 to test for common variants in the G6PC gene associated with glycogen storage disease type I.
- A research study investigates the prevalence of specific variants in the G6PC gene using CPT 81250.
- A patient with a family history of glycogen storage disease type I undergoes CPT 81250 to assess their risk of carrying specific variants in the G6PC gene.
- A patient with symptoms consistent with glycogen storage disease type Ia undergoes CPT 81250 to rule out the presence of specific variants in the G6PC gene.
- A genetic counselor orders CPT 81250 to assess the risk of glycogen storage disease type I in a patient planning to start a family.
- A patient with a known G6PC gene mutation undergoes CPT 81250 to determine if additional common variants are present.
- A patient with a suspected glycogen storage disease undergoes CPT 81250 as part of a comprehensive genetic analysis.
