How To Use CPT Code 81460

CPT 81460 describes the genomic sequence panel for the evaluation of the entire mitochondrial genome, specifically related to nerve or muscle pathologies such as Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), myoclonic epilepsy with ragged-red fibers (MERFF), neuropathy, ataxia, and retinitis pigmentosa (NARP), and Leber hereditary optic neuropathy (LHON). 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 81460?

CPT 81460 can be used to describe the genomic sequence panel performed to evaluate the entire mitochondrial genome. This test is specifically designed to identify genetic sequences related to nerve or muscle pathologies, including Leigh syndrome, MELAS, MERFF, NARP, and LHON. It involves analyzing the entire mitochondrial DNA and detecting heteroplasmy, which refers to the presence of both mutated and normal mitochondrial DNA within an individual.

2. Official Description

The official description of CPT code 81460 is: ‘Whole mitochondrial genome (eg, Leigh syndrome, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes [MELAS], myoclonic epilepsy with ragged-red fibers [MERFF], neuropathy, ataxia, and retinitis pigmentosa [NARP], Leber hereditary optic neuropathy [LHON]), genomic sequence, must include sequence analysis of entire mitochondrial genome with heteroplasmy detection.’

3. Procedure

1. The lab analyst collects a patient specimen, typically blood, for the genomic sequence panel.
2. Using specialized equipment, such as a next-generation gene sequencer, the analyst performs the genomic sequence panel to evaluate the entire mitochondrial genome.
3. The instrument generates a sequence read, which is compared to a reference genome to identify any genetic variations or mutations associated with nerve or muscle pathologies.
4. The test also includes heteroplasmy detection, which determines if there is a mixture of mutated and normal mitochondrial DNA within the patient’s specimen.

4. Qualifying circumstances

CPT 81460 is appropriate for patients who require evaluation of the entire mitochondrial genome for nerve or muscle pathologies. It is commonly ordered for individuals suspected of having conditions such as Leigh syndrome, MELAS, MERFF, NARP, and LHON. The test specifically focuses on mitochondrial DNA and does not involve analysis of nuclear-encoded mitochondrial genes.

5. When to use CPT code 81460

CPT code 81460 should be used when a genomic sequence panel is performed to evaluate the entire mitochondrial genome for nerve or muscle pathologies. It is important to ensure that the test includes sequence analysis of the entire mitochondrial genome and heteroplasmy detection. This code should not be used for testing related to whole mitochondrial genome duplication and deletion analysis, which has a separate CPT code (81465).

6. Documentation requirements

To support a claim for CPT 81460, the following documentation is required:

• Indication for the test, including the suspected nerve or muscle pathology
• Details of the genomic sequence panel performed, including the analysis of the entire mitochondrial genome and heteroplasmy detection
• Date of the test
• Results of the test, including any genetic variations or mutations identified
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT 81460, ensure that the test includes the analysis of the entire mitochondrial genome and heteroplasmy detection. It is important to use the appropriate CPT code for the specific type of testing required. CPT code 81460 should not be reported with other codes related to nuclear-encoded mitochondrial genes or whole mitochondrial genome duplication and deletion analysis.

8. Historical information

CPT 81460 was added to the Current Procedural Terminology system on January 1, 2015. There have been no updates or changes to the code since its addition.

9. Examples

1. A patient presents with symptoms suggestive of Leigh syndrome. The genomic sequence panel is performed using CPT code 81460 to evaluate the entire mitochondrial genome and detect any genetic variations associated with the condition.
2. A child exhibits signs of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). CPT code 81460 is used to analyze the entire mitochondrial genome and identify any mutations or variations related to MELAS.
3. An individual has a family history of myoclonic epilepsy with ragged-red fibers (MERFF). The genomic sequence panel, billed under CPT code 81460, is performed to evaluate the entire mitochondrial genome and detect any genetic abnormalities associated with MERFF.
4. A patient presents with symptoms consistent with neuropathy, ataxia, and retinitis pigmentosa (NARP). CPT code 81460 is used to analyze the entire mitochondrial genome and identify any genetic variations or mutations related to NARP.