How To Use CPT Code 81465

CPT 81465 describes the genomic sequence analysis panel for evaluating the entire mitochondrial genome for large deletions, including heteroplasmy detection if performed. 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 81465?

CPT 81465 can be used to describe the genomic sequence analysis panel that evaluates the entire mitochondrial genome for large deletions. This test is specifically designed to identify missing sections of DNA that are associated with nerve or muscle pathologies, such as those seen in Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia. The code also includes heteroplasmy detection, which involves identifying if some mitochondrial DNA exhibits mutation while some remains normal.

2. Official Description

The official description of CPT code 81465 is: ‘Whole mitochondrial genome large deletion analysis panel (eg, Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia), including heteroplasmy detection, if performed.’

3. Procedure

1. The lab analyst performs a genomic sequence analysis panel to evaluate the entire mitochondrial genome from the patient specimen for large deletions.
2. The test includes heteroplasmy detection, if performed, to identify if some mitochondrial DNA exhibits mutation while some remains normal.
3. The lab analyst may use methods such as Multiplex Ligation dependent Probe Amplification (MLPA) to detect duplications and deletions in nucleotide sequences that normal DNA sequencing methods may not detect.

4. Qualifying circumstances

CPT 81465 is used to evaluate disorders of the mitochondria that can affect nerve and muscle function. Symptoms of mitochondrial disorders can vary widely and may include muscle weakness, organ diseases, neurological problems, and vision or hearing loss. This test is specifically designed to identify large deletion mutations in the mitochondrial DNA that may not be detected by normal sequencing methods. It is important to note that this test only involves the evaluation of mitochondrial DNA and not nuclear-encoded mitochondrial genes.

5. When to use CPT code 81465

CPT code 81465 should be used when there is a clinical suspicion of a mitochondrial disorder and the clinician wants to evaluate the entire mitochondrial genome for large deletions. This test is particularly useful when other sequencing methods have not detected any mutations, but there is still a strong suspicion of a mitochondrial disorder. It is important to ensure that the test is medically necessary and will provide valuable information for the patient’s diagnosis and treatment.

6. Documentation requirements

To support a claim for CPT 81465, the documentation should include:

• Indication of the clinical suspicion of a mitochondrial disorder
• Explanation of why the test is medically necessary and will provide valuable information for the patient’s diagnosis and treatment
• Details of the genomic sequence analysis panel performed, including the method used (e.g., MLPA)
• Results of the analysis, including any large deletions identified and the presence or absence of heteroplasmy
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT 81465, ensure that the test is medically necessary and supported by appropriate documentation. It is important to use the code only for the evaluation of the entire mitochondrial genome for large deletions and heteroplasmy detection. This code should not be reported with other codes for different types of genetic testing. It is also important to follow any specific billing guidelines provided by the payer to ensure accurate reimbursement.

8. Historical information

CPT 81465 was added to the Current Procedural Terminology system on January 1, 2015. There have been no updates to the code since its addition.

9. Examples

1. A patient with symptoms of muscle weakness and vision problems undergoes CPT 81465 to evaluate the entire mitochondrial genome for large deletions and heteroplasmy detection.
2. A child with suspected Kearns-Sayre syndrome undergoes CPT 81465 to identify any large deletions in the mitochondrial DNA.
3. A patient with chronic progressive external ophthalmoplegia undergoes CPT 81465 to evaluate the entire mitochondrial genome for large deletions and heteroplasmy detection.
4. A family with a history of mitochondrial disorders undergoes CPT 81465 to assess the risk of large deletions in the mitochondrial DNA.
5. A patient with unexplained muscle weakness and fatigue undergoes CPT 81465 to evaluate the entire mitochondrial genome for large deletions and heteroplasmy detection.
6. A patient with suspected mitochondrial myopathy undergoes CPT 81465 to identify any large deletions in the mitochondrial DNA.
7. A patient with symptoms of vision loss and hearing impairment undergoes CPT 81465 to evaluate the entire mitochondrial genome for large deletions and heteroplasmy detection.
8. A child with developmental delays and neurological symptoms undergoes CPT 81465 to identify any large deletions in the mitochondrial DNA.
9. A patient with a family history of mitochondrial disorders undergoes CPT 81465 to assess the risk of large deletions in the mitochondrial DNA.
10. A patient with unexplained exercise intolerance and muscle pain undergoes CPT 81465 to evaluate the entire mitochondrial genome for large deletions and heteroplasmy detection.