How To Use CPT Code 81416

CPT 81416 describes the procedure for exome gene sequence analysis in a relative of the patient to create a reference exome gene sequence. 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 81416?

CPT 81416 can be used to describe the procedure for exome gene sequence analysis in a relative of the patient. This analysis is performed to create a reference exome gene sequence that can be compared to the patient’s exome. The goal of this test is to evaluate an unexplained disorder or syndrome in the patient.

2. Official Description

The official description of CPT code 81416 is: ‘Exome (eg, unexplained constitutional or heritable disorder or syndrome); sequence analysis, each comparator exome (eg, parents, siblings) (List separately in addition to code for primary procedure)’. This code should be used in conjunction with CPT code 81415, which is used for the patient’s exome gene sequence analysis.

3. Procedure

1. The lab analyst collects a specimen, such as blood, from a relative of the patient.
2. The lab analyst performs an exome gene sequence analysis on the collected specimen using specialized equipment, such as a next-generation gene sequencer.
3. The gene sequencer determines the order of nucleotides in the DNA, creating a comparator exome gene sequence.
4. The comparator exome gene sequence is reported as a string of letters, called a read.
5. The lab analyst compares the comparator exome gene sequence to the patient’s exome gene sequence to evaluate any differences or mutations.
6. The results of the analysis are used to aid in the diagnosis of an unexplained disorder or syndrome in the patient.

4. Qualifying circumstances

CPT 81416 is used when there is a need to evaluate an unexplained constitutional or heritable disorder or syndrome in a patient. The procedure involves performing an exome gene sequence analysis in a relative of the patient, such as a parent or sibling, to create a reference exome gene sequence. This reference sequence is then compared to the patient’s exome to identify any differences or mutations that may be associated with the patient’s condition.

5. When to use CPT code 81416

CPT code 81416 should be used when there is a need to perform an exome gene sequence analysis in a relative of the patient to create a reference exome gene sequence. This analysis is typically ordered when there is an unexplained constitutional or heritable disorder or syndrome in the patient, and the comparison of the patient’s exome to a reference exome may provide valuable insights for diagnosis and treatment.

6. Documentation requirements

To support a claim for CPT 81416, the following documentation is required:

• Documentation of the patient’s unexplained constitutional or heritable disorder or syndrome
• Documentation of the need for an exome gene sequence analysis in a relative of the patient
• Date and time of the specimen collection
• Details of the exome gene sequence analysis performed
• Comparator exome gene sequence read
• Comparison of the patient’s exome to the reference exome
• Results of the analysis and their implications for diagnosis and treatment
• Signature of the lab analyst performing the analysis

7. Billing guidelines

When billing for CPT 81416, ensure that the procedure is performed in conjunction with CPT code 81415, which is used for the patient’s exome gene sequence analysis. It is important to report both codes together to accurately reflect the complete procedure. Additionally, be aware that some payers may require separate reporting for the collection of the specimen using a code such as 36415. Make sure to follow the specific billing guidelines of the payer to ensure proper reimbursement.

8. Historical information

CPT 81416 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 an exome gene sequence analysis in the patient’s sibling to create a reference exome gene sequence for comparison.
2. A patient with an unexplained disorder undergoes an exome gene sequence analysis in their parent to identify any genetic mutations associated with the condition.
3. A family with a heritable syndrome has their exomes sequenced to compare the genetic variations and identify potential disease-causing mutations.
4. A patient with a constitutional disorder has their exome gene sequence compared to their sibling’s exome to determine if there are any shared genetic mutations.
5. A lab analyst performs an exome gene sequence analysis in the patient’s parent to create a reference exome gene sequence for diagnostic purposes.
6. A patient with a suspected genetic disorder undergoes an exome gene sequence analysis in their sibling to identify any disease-causing mutations.
7. A family with a history of heritable disorders has their exomes sequenced to identify potential genetic mutations that may be contributing to their conditions.
8. A patient with an unexplained syndrome has their exome gene sequence compared to their parent’s exome to identify any shared genetic variations.
9. A lab analyst performs an exome gene sequence analysis in the patient’s sibling to create a reference exome gene sequence for further analysis.
10. A patient with a constitutional disorder undergoes an exome gene sequence analysis in their parent to determine if there are any genetic mutations associated with the condition.