How To Use CPT Code 81438

CPT 81438 describes the analysis panel for hereditary neuroendocrine tumor disorders, specifically evaluating genetic duplications and deletions in at least four genes associated with these disorders. 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 81438?

CPT 81438 can be used to analyze genetic duplications and deletions in at least four genes that are associated with hereditary neuroendocrine tumor disorders. This code is used to evaluate abnormal masses that originate from cells of the endocrine or nervous system. The analysis panel helps identify mutations in these genes that may contribute to the development of these tumor disorders.

2. Official Description

The official description of CPT code 81438 is: ‘Hereditary neuroendocrine tumor disorders (e.g., medullary thyroid carcinoma, parathyroid carcinoma, malignant pheochromocytoma or paraganglioma); duplication/deletion analysis panel, must include analyses for SDHB, SDHC, SDHD, and VHL.’

3. Procedure

  1. The lab analyst performs a duplication and deletion analysis panel on a patient specimen, such as blood.
  2. The analysis panel evaluates genetic duplications and deletions in at least four genes: SDHB, SDHC, SDHD, and VHL.
  3. The lab analyst may use a method like Multiplex Ligation dependent Probe Amplification (MLPA) to detect large deletions and duplications of nucleotide sequences that normal DNA sequencing methods may not detect.
  4. The analysis helps identify mutations in these genes that may be associated with hereditary neuroendocrine tumor disorders.

4. Qualifying circumstances

CPT 81438 is used for patients with known familial neuroendocrine tumor large deletions or duplications, or as a follow-up test for symptomatic patients with negative results from a gene sequencing test. This analysis panel allows for the evaluation of patients who may have a duplication or deletion mutation that the initial gene sequencing test did not detect. It is important to note that this code is specifically for hereditary neuroendocrine tumor disorders and should not be used for other conditions.

5. When to use CPT code 81438

CPT code 81438 should be used when evaluating patients with suspected or confirmed hereditary neuroendocrine tumor disorders. It is appropriate to bill this code when performing a duplication and deletion analysis panel for at least four genes associated with these disorders. This code should not be used for other genetic tests or for patients without a suspected or confirmed diagnosis of hereditary neuroendocrine tumor disorders.

6. Documentation requirements

To support a claim for CPT 81438, the documentation should include:

  • Indication of the patient’s suspected or confirmed hereditary neuroendocrine tumor disorder
  • Specific genes included in the duplication and deletion analysis panel (SDHB, SDHC, SDHD, and VHL)
  • Date of the analysis
  • Method used for the analysis (e.g., Multiplex Ligation dependent Probe Amplification)
  • Results of the analysis, including any identified duplications or deletions
  • Signature of the lab analyst performing the analysis

7. Billing guidelines

When billing for CPT 81438, ensure that the analysis panel includes the required genes (SDHB, SDHC, SDHD, and VHL). It is important to note that this code should not be reported with other codes for the same analysis panel. Additionally, some payers may separately reimburse for specimen collection using a code such as 36415. It is recommended to review payer-specific guidelines for accurate billing and reimbursement.

8. Historical information

CPT 81438 was added to the Current Procedural Terminology system on January 1, 2016. There have been no updates to the code since its addition.

9. Examples

  1. A patient with a family history of medullary thyroid carcinoma undergoes a duplication and deletion analysis panel for SDHB, SDHC, SDHD, and VHL to assess their risk for hereditary neuroendocrine tumor disorders.
  2. A symptomatic patient with negative results from a gene sequencing test for hereditary neuroendocrine tumor disorders undergoes a follow-up duplication and deletion analysis panel for SDHB, SDHC, SDHD, and VHL to evaluate for potential mutations that were not detected by the initial test.
  3. A patient with suspected parathyroid carcinoma undergoes a duplication and deletion analysis panel for SDHB, SDHC, SDHD, and VHL to determine if there are any genetic duplications or deletions associated with this condition.
  4. A patient with a family history of malignant pheochromocytoma undergoes a duplication and deletion analysis panel for SDHB, SDHC, SDHD, and VHL to assess their risk for hereditary neuroendocrine tumor disorders.
  5. A patient with a suspected paraganglioma undergoes a duplication and deletion analysis panel for SDHB, SDHC, SDHD, and VHL to evaluate for potential genetic mutations associated with this condition.

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