How To Use CPT Code 0215U

CPT 0215U describes the analysis of rare diseases and genetic disorders using whole exome and mitochondrial DNA sequencing. This article will cover the description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples.

1. What is CPT Code 0215U?

CPT 0215U can be used to describe the analysis of rare diseases and genetic disorders using whole exome and mitochondrial DNA sequencing. This code is specifically used for identifying and categorizing genetic variants, including small sequence changes, deletions, duplications, and short tandem repeat gene expansions, in non-uniquely mappable regions. The analysis is performed on blood or saliva samples and helps in the evaluation of constitutional or heritable disorders.

2. Official Description

The official description of CPT code 0215U is: ‘Rare diseases (constitutional/heritable disorders), whole exome and mitochondrial DNA sequence analysis, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions, blood or saliva, identification and categorization of genetic variants, each comparator exome (eg, parent, sibling).’ It is important to note that this code should not be reported in conjunction with code 81416.

3. Procedure

1. The procedure involves analyzing the entire exome and mitochondrial DNA sequence of a patient’s sample, which can be obtained from blood or saliva.
2. Specialized equipment, such as a next-generation gene sequencer, is used to determine the order of nucleotides in the DNA.
3. The analysis focuses on the genes that form exons, which are DNA sequences that transcribe into mature RNA and code for proteins.
4. The gene sequencer generates a read of the patient’s exome gene sequence, which is then analyzed using proprietary algorithms.
5. An analyst interprets the data in relation to the patient’s physical characteristics and identifies and categorizes genetic variants, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions.

4. Qualifying circumstances

CPT 0215U is typically used when there is a need to evaluate rare diseases or genetic disorders that may be constitutional or heritable. This analysis is ordered by clinicians to aid in the diagnosis of unexplained symptoms that could be associated with such disorders. It is important to note that this code should not be reported in conjunction with code 81416.

5. When to use CPT code 0215U

CPT code 0215U should be used when performing whole exome and mitochondrial DNA sequence analysis to identify and categorize genetic variants in patients with suspected rare diseases or genetic disorders. It is important to follow the specific guidelines and notes provided for this code to ensure accurate reporting.

6. Documentation requirements

To support a claim for CPT code 0215U, the following documentation is required:

• Indication of the patient’s symptoms or suspected rare disease/genetic disorder
• Details of the analysis performed, including the use of whole exome and mitochondrial DNA sequencing
• Date and source of the patient’s sample (blood or saliva)
• Results of the analysis, including the identification and categorization of genetic variants
• Signature of the analyst performing the analysis

7. Billing guidelines

When billing for CPT code 0215U, ensure that the analysis is performed for the identification and categorization of genetic variants using whole exome and mitochondrial DNA sequencing. This code should not be reported in conjunction with code 81416. It is important to follow any additional guidelines or tips provided by payers to ensure accurate and appropriate billing.

8. Historical information

CPT code 0215U was added to the Current Procedural Terminology system on October 1, 2020. There have been no updates to the code since its addition.

9. Examples

1. An analyst performing whole exome and mitochondrial DNA sequence analysis to identify genetic variants in a patient with an unexplained movement disorder.
2. An analysis of the exome and mitochondrial DNA sequence in a sibling of a proband patient to evaluate the presence of a rare genetic disorder.
3. Identification and categorization of genetic variants using whole exome and mitochondrial DNA sequencing in a patient with early-onset intellectual disability.
4. An analysis of the patient’s exome and mitochondrial DNA sequence to assess the presence of short tandem repeat gene expansions associated with a specific disorder.
5. Whole exome and mitochondrial DNA sequence analysis performed on a patient’s sample to identify small sequence changes and deletions associated with a suspected genetic disorder.
6. An analyst using whole exome and mitochondrial DNA sequencing to identify and categorize genetic variants in a patient with an unexplained syndrome.
7. Analysis of the exome and mitochondrial DNA sequence in a patient’s sample to evaluate the presence of variants in non-uniquely mappable regions associated with a rare disease.
8. An analysis of the patient’s exome and mitochondrial DNA sequence to identify duplications and variants in non-uniquely mappable regions associated with a constitutional disorder.
9. Whole exome and mitochondrial DNA sequence analysis performed on a patient’s sample to identify genetic variants in a family member of a proband patient.
10. An analyst using whole exome and mitochondrial DNA sequencing to identify and categorize genetic variants in a patient with an unexplained genetic disorder.