How To Use CPT Code 0214U

CPT 0214U describes a rare disease analysis that involves whole exome and mitochondrial DNA sequence analysis. This article will cover the official description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples of CPT code 0214U.

1. What is CPT Code 0214U?

CPT 0214U can be used to identify and categorize genetic variants in patients with rare, constitutional or heritable disorders. This code is specifically for the Genomic Unity® Exome Plus Analysis – Proband test offered by Variantyx Inc. It involves the analysis of the whole exome and mitochondrial DNA sequence, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions.

2. Official Description

The official description of CPT code 0214U 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, proband.’

3. Procedure

1. The lab analyst performs a single platform test using a patient’s blood or saliva specimen.
2. The test involves analyzing the whole exome and mitochondrial DNA sequence, as well as identifying and categorizing genetic variants.
3. The analysis includes the detection of small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions.
4. The test also evaluates constitutional genome-wide copy number variation, gene tandem repeat expansion, and mitochondrial whole genome sequence with deletion/duplication and heteroplasmy.
5. The results are obtained using specialized equipment, such as a next-generation gene sequencer, and are interpreted by an analyst in relation to the patient’s physical characteristics.

4. Qualifying circumstances

CPT 0214U is appropriate for patients with rare, unexplained constitutional or genetic disorders. It can aid in the diagnosis of conditions such as adult-onset movement disorders, early-onset intellectual disability disorders, and other disorders that require short tandem repeat analysis. The test is performed on the proband, which refers to the first patient in a family to receive genetic testing for a possible genetic disorder. The analysis is conducted using a patient’s blood or saliva specimen.

5. When to use CPT code 0214U

CPT code 0214U should be used when ordering the Genomic Unity® Exome Plus Analysis – Proband test from Variantyx Inc. This test is specifically designed for evaluating rare, unexplained constitutional or genetic disorders in a proband patient. It is not limited to testing for a specific condition and can be used when there is a need to analyze the whole exome and mitochondrial DNA sequence.

6. Documentation requirements

To support a claim for CPT code 0214U, the following documentation is required:

• Indication of the patient’s symptoms or condition that necessitates the test
• Details of the patient’s physical characteristics relevant to the analysis
• Date and specific test performed, including the use of blood or saliva specimen
• Results of the analysis, including the identification and categorization of genetic variants
• Signature of the lab analyst performing the test

7. Billing guidelines

When billing for CPT code 0214U, ensure that the test is performed by Variantyx Inc. and is specifically the Genomic Unity® Exome Plus Analysis – Proband test. It is important to report only one unit of this code for a single specimen analyzed on a single date of service. Other related codes, such as 0215U for a comparator exome or 0212U for a proband whole genome, should be used for different tests. Additionally, some payers may separately reimburse for specimen collection using a code like 36415.

8. Historical information

CPT code 0214U was added to the Current Procedural Terminology system on October 1, 2020. There have been no updates or changes to the code since its addition.

9. Examples

1. A patient with unexplained symptoms undergoes the Genomic Unity® Exome Plus Analysis – Proband test to identify potential genetic variants associated with a rare disease.
2. A proband patient with an early-onset intellectual disability disorder receives the whole exome and mitochondrial DNA sequence analysis to aid in the diagnosis and management of their condition.
3. A patient with an adult-onset movement disorder undergoes the analysis to identify any genetic variants that may be contributing to their condition.
4. A patient with unexplained short tandem repeat expansions receives the test to evaluate potential genetic disorders or syndromes associated with these expansions.
5. A patient with a rare, unexplained constitutional disorder undergoes the analysis to identify any genetic variants that may be contributing to their condition.
6. A proband patient with a suspected genetic disorder receives the analysis to evaluate potential genetic variants and aid in the diagnosis and management of their condition.
7. A patient with unexplained symptoms undergoes the Genomic Unity® Exome Plus Analysis – Proband test to identify potential genetic variants associated with a rare disease.
8. A proband patient with an early-onset intellectual disability disorder receives the whole exome and mitochondrial DNA sequence analysis to aid in the diagnosis and management of their condition.
9. A patient with an adult-onset movement disorder undergoes the analysis to identify any genetic variants that may be contributing to their condition.
10. A patient with unexplained short tandem repeat expansions receives the test to evaluate potential genetic disorders or syndromes associated with these expansions.