How To Use CPT Code 81417

CPT 81417 describes the re-evaluation of a previously obtained exome gene sequence for patients with unexplained constitutional or heritable disorders or syndromes. 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 81417?

CPT 81417 can be used to describe the re-evaluation of a previously obtained exome gene sequence for patients with unexplained constitutional or heritable disorders or syndromes. This code is used when a lab analyst evaluates the existing patient exome gene sequence in light of new information that was not available at the time of the initial evaluation. The re-evaluation may involve comparing the patient’s exome gene sequence with an existing reference exome gene sequence or a new reference exome gene sequence analysis.

2. Official Description

The official description of CPT code 81417 is: ‘Exome (eg, unexplained constitutional or heritable disorder or syndrome); re-evaluation of previously obtained exome sequence (eg, updated knowledge or unrelated condition/syndrome).’ This code should not be reported for incidental findings, and it should not be reported when analysis for chromosomal abnormalities is performed by sequence analysis included in CPT codes 81415 and 81416. For cytogenomic copy number assessment, see CPT codes 81228 and 81229.

3. Procedure

1. The lab analyst evaluates the existing patient exome gene sequence in light of new information that was not available at the time of the initial evaluation.
2. The lab analyst may compare the existing patient exome gene sequence with an existing reference exome gene sequence or a new reference exome gene sequence analysis.
3. The re-evaluation may involve identifying any new clinical information or evidence of an unrelated condition that could impact the interpretation of the patient’s exome gene sequence.
4. The lab analyst may also compare the patient’s exome gene sequence with a reference exome gene sequence to identify any variants or mutations that may be associated with unexplained constitutional or heritable disorders or syndromes.
5. Each additional comparator exome gene sequence procedure should be reported with CPT code 81416, and it should be listed separately in addition to the code for the primary procedure.

4. Qualifying circumstances

Patients eligible for CPT 81417 are those with unexplained constitutional or heritable disorders or syndromes. This code is used when there is a need to re-evaluate a previously obtained exome gene sequence in light of new information that was not available at the time of the initial evaluation. The re-evaluation may be necessary to update knowledge or to investigate the presence of an unrelated condition or syndrome. Clinicians may order this test to aid in the diagnosis of unexplained patient symptoms that could be associated with a genetic disorder or syndrome.

5. When to use CPT code 81417

CPT code 81417 should be used when there is a need to re-evaluate a previously obtained exome gene sequence for patients with unexplained constitutional or heritable disorders or syndromes. It should not be reported for incidental findings, and it should not be reported when analysis for chromosomal abnormalities is performed by sequence analysis included in CPT codes 81415 and 81416. For cytogenomic copy number assessment, a different set of codes should be used (81228 and 81229).

6. Documentation requirements

To support a claim for CPT 81417, the documentation should include:

• Explanation of the need for re-evaluation of the previously obtained exome gene sequence
• Description of the new information that was not available at the time of the initial evaluation
• Details of the comparison between the patient’s exome gene sequence and a reference exome gene sequence
• Identification of any variants or mutations that may be associated with unexplained constitutional or heritable disorders or syndromes
• Signature of the lab analyst performing the re-evaluation

7. Billing guidelines

When billing for CPT 81417, ensure that the re-evaluation of the previously obtained exome gene sequence is performed by a qualified lab analyst. This code should not be reported for incidental findings, and it should not be reported when analysis for chromosomal abnormalities is performed by sequence analysis included in CPT codes 81415 and 81416. Each additional comparator exome gene sequence procedure should be reported with CPT code 81416. It is important to distinguish the codes for exome analysis (81415-81417) from the codes for whole genome analysis (81425-81427).

8. Historical information

CPT 81417 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 re-evaluating a previously obtained exome gene sequence for a patient with an unexplained constitutional disorder, comparing it with a new reference exome gene sequence analysis.
2. A clinician ordering the re-evaluation of a patient’s exome gene sequence due to the emergence of new clinical information that could impact the interpretation of the sequence.
3. A lab analyst comparing the exome gene sequence of a patient with unexplained symptoms to an existing reference exome gene sequence to identify any variants or mutations associated with a heritable disorder or syndrome.
4. A patient with a previously obtained exome gene sequence undergoing re-evaluation due to evidence of an unrelated condition that may be impacting their health.