How To Use CPT Code 81290

CPT 81290 describes the analysis of the MCOLN1 gene to detect common variants associated with mucolipidosis, type IV. 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 81290?

CPT 81290 can be used to describe the analysis of the MCOLN1 gene to detect common variants. This code is specifically used to identify changes in the gene that are associated with mucolipidosis, type IV. The test typically includes the detection of variants such as IVS3-2A>G and del6.4kb, but may also include other non-listed variants.

2. Official Description

The official description of CPT code 81290 is: ‘MCOLN1 (mucolipin 1) (eg, Mucolipidosis, type IV) gene analysis, common variants (eg, IVS3-2A>G, del6.4kb)’

3. Procedure

1. The lab analyst performs the technical lab test to detect the presence of common changes in the MCOLN1 gene.
2. The lab analyst performs all technical steps, including nucleic acid extraction, amplification, and detection of the target genes.
3. A single unit of 81290 represents testing for any of the more frequent changes in the MCOLN1 gene, known as common variants.
4. The test typically includes the detection of variants such as IVS3-2A>G and del6.4kb, but may also include other non-listed variants.

4. Qualifying circumstances

CPT 81290 is typically ordered for patients suspected of having mucolipidosis, type IV, or for prenatal testing, especially for families of Ashkenazi Jewish descent. Mucolipidosis, type IV, is a genetic disorder characterized by developmental delays in motor and mental function, as well as progressive visual impairment. The test can be ordered by any clinician for diagnostic purposes.

5. When to use CPT code 81290

CPT code 81290 should be used when there is a clinical suspicion of mucolipidosis, type IV, or when prenatal testing is required, particularly for families of Ashkenazi Jewish descent. It is important to note that this code is not limited to testing for a specific condition and can be used for other genetic disorders associated with the MCOLN1 gene.

6. Documentation requirements

To support a claim for CPT 81290, the documentation should include:

• Clinical indication for the test, such as suspected mucolipidosis, type IV
• Details of the variants tested, including IVS3-2A>G and del6.4kb
• Date of the test
• Results of the analysis, including any other non-listed variants detected
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT 81290, ensure that the test is performed to detect common variants in the MCOLN1 gene. It is important to note that this code should not be reported with other codes unless specifically requested by the ordering clinician for physician interpretation. In such cases, modifier 26 should be appended to the code.

8. Historical information

CPT 81290 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 clinician orders CPT 81290 for a patient suspected of having mucolipidosis, type IV, to confirm the diagnosis.
2. A pregnant woman of Ashkenazi Jewish descent undergoes CPT 81290 for prenatal testing to assess the risk of mucolipidosis, type IV, in her unborn child.
3. A clinician orders CPT 81290 to analyze the MCOLN1 gene for a patient with developmental delays and visual impairment, suspecting mucolipidosis, type IV.
4. A clinician orders CPT 81290 to analyze the MCOLN1 gene for a patient with a family history of mucolipidosis, type IV, to assess the risk of the condition.
5. A clinician orders CPT 81290 to analyze the MCOLN1 gene for a patient with unexplained motor and mental function delays, suspecting mucolipidosis, type IV.
6. A clinician orders CPT 81290 to analyze the MCOLN1 gene for a patient with progressive visual impairment, suspecting mucolipidosis, type IV.
7. A clinician orders CPT 81290 to analyze the MCOLN1 gene for a patient with suspected genetic disorders associated with the MCOLN1 gene.
8. A clinician orders CPT 81290 to analyze the MCOLN1 gene for a patient with symptoms similar to mucolipidosis, type IV, to rule out the condition.
9. A clinician orders CPT 81290 to analyze the MCOLN1 gene for a patient with suspected genetic disorders characterized by developmental delays and visual impairment.
10. A clinician orders CPT 81290 to analyze the MCOLN1 gene for a patient with unexplained motor and mental function delays and a family history of genetic disorders.