How To Use CPT Code 81471

CPT 81471 describes the analysis of duplication and deletion mutations in at least 60 genes related to X-linked intellectual disability (XLID). 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 81471?

CPT 81471 can be used to analyze duplication and deletion mutations in at least 60 genes associated with X-linked intellectual disability (XLID). This code is used when a lab analyst performs a panel to evaluate a patient’s specimen for these specific mutations.

2. Official Description

The official description of CPT code 81471 is: ‘Duplication/deletion gene analysis, must include analysis of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2.’

3. Procedure

  1. The lab analyst collects a patient specimen, such as blood, for analysis.
  2. The lab analyst performs duplication and deletion analysis for at least 60 genes, including the specific genes listed in the code description.
  3. A method like Multiplex Ligation dependent Probe Amplification (MLPA) may be used to detect duplications and deletions in nucleotide sequences that normal DNA sequencing methods cannot detect.

4. Qualifying circumstances

CPT 81471 is used for patients suspected of having X-linked intellectual disability disorders who have tested negative for mutations using full gene sequencing (CPT code 81470). This analysis specifically looks for duplication and deletion mutations in the 60 genes associated with XLID.

5. When to use CPT code 81471

CPT code 81471 should be used when a lab analyst performs the analysis of duplication and deletion mutations in at least 60 genes related to X-linked intellectual disability. It is appropriate when the patient has already undergone full gene sequencing (CPT code 81470) and the clinician suspects that duplication or deletion mutations may be present.

6. Documentation requirements

To support a claim for CPT 81471, the documentation should include:

  • Patient’s suspected X-linked intellectual disability disorder
  • Specific genes analyzed, including the 60 genes listed in the code description
  • Date of specimen collection
  • Method used for analysis, such as MLPA

7. Billing guidelines

When billing for CPT 81471, ensure that the analysis includes at least 60 genes, including the specific genes listed in the code description. It is important to distinguish between CPT codes 81470 and 81471, and report only the appropriate code based on the type of analysis performed. Additional tips for reporting CPT 81471 may include separate billing for specimen collection (CPT code 36415) and considering reporting both CPT codes 81470 and 81471 if both procedures are performed.

8. Historical information

CPT 81471 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 lab analyst performs duplication and deletion gene analysis for a patient suspected of having X-linked intellectual disability, analyzing at least 60 genes including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL, RPS6KA3, and SLC16A2.
  2. Another example can be provided here with a different scenario and patient condition.

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