How To Use CPT Code 0213U

CPT 0213U describes the analysis of rare diseases and genetic disorders using whole genome and mitochondrial DNA sequencing. This article will cover the official description, procedure, qualifying circumstances, appropriate usage, documentation requirements, billing guidelines, historical information, and examples of CPT code 0213U.

1. What is CPT Code 0213U?

CPT 0213U can be used to identify and categorize genetic variants in individuals with rare diseases or constitutional/heritable disorders. This code is specifically for the analysis of whole genome and mitochondrial DNA sequence, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions. The test is performed using a patient’s blood or saliva sample and involves the identification and comparison of genetic variants with a reference genome.

2. Official Description

The official description of CPT code 0213U is: ‘Rare diseases (constitutional/heritable disorders), whole genome 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 genome (eg, parent, sibling).’ This code is a proprietary laboratory analysis (PLA) code and applies to the Genomic Unity® Whole Genome Analysis – Comparator from Variantyx Inc.

3. Procedure

1. The procedure begins with the collection of a patient’s blood or saliva sample.
2. The sample is then subjected to whole genome and mitochondrial DNA sequencing using specialized equipment, such as a next-generation sequencer.
3. The gene sequencer generates a patient genome gene sequence, which is a string of letters representing the order of nucleotides in the DNA.
4. Proprietary algorithms analyze the data to identify and categorize genetic variants, including small sequence changes, deletions, duplications, short tandem repeat gene expansions, and variants in non-uniquely mappable regions.
5. The lab analyst interprets the data and compares the patient’s genome to a reference genome to evaluate rare constitutional or genetic disorders.

4. Qualifying circumstances

CPT 0213U is used for patients with rare diseases or constitutional/heritable disorders that require whole genome and mitochondrial DNA sequence analysis. It is typically ordered when there is an unexplained set of patient symptoms that could be associated with a genetic disorder or syndrome. The test is performed on a relative of the proband patient, who is the first person in a family to undergo genetic counseling or testing for a possible genetic disorder. The analysis helps in the diagnosis of conditions such as adult-onset movement disorder, early-onset intellectual disability disorder, and other disorders of short tandem repeat analysis.

5. When to use CPT code 0213U

CPT code 0213U should be used when performing whole genome and mitochondrial DNA sequence analysis for the identification and categorization of genetic variants in patients with rare diseases or constitutional/heritable disorders. It is important to note that this code should not be reported in conjunction with CPT code 81426.

6. Documentation requirements

To support a claim for CPT code 0213U, the following documentation is required:

• Patient’s medical history and symptoms indicating the need for genetic analysis
• Details of the whole genome and mitochondrial DNA sequence analysis performed
• Date and location of the analysis
• Identification and categorization of genetic variants
• Comparison of the patient’s genome with a reference genome
• Signature of the lab analyst performing the analysis

7. Billing guidelines

When billing for CPT code 0213U, ensure that the analysis is performed by Variantyx Inc. using the Genomic Unity® Whole Genome Analysis – Comparator. This code should not be reported with CPT code 81426. It is important to follow the specific guidelines and requirements of the payer when submitting claims for this code.

8. Historical information

CPT code 0213U 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 an unexplained movement disorder undergoes whole genome and mitochondrial DNA sequence analysis to identify potential genetic variants associated with the condition.
2. A family seeks genetic testing for their child with early-onset intellectual disability to determine if there are any genetic variants contributing to the disorder.
3. A patient presents with symptoms suggestive of a rare constitutional disorder, and whole genome and mitochondrial DNA sequence analysis is performed to identify potential genetic variants.
4. A sibling of a proband patient with a known genetic disorder undergoes whole genome and mitochondrial DNA sequence analysis to evaluate their risk of developing the same condition.
5. A patient with a family history of short tandem repeat disorders undergoes genetic analysis to assess their risk of inheriting the condition.
6. A patient with an unexplained set of symptoms undergoes whole genome and mitochondrial DNA sequence analysis to identify potential genetic variants associated with their condition.
7. A parent of a child with a rare disease undergoes genetic testing to determine if there are any genetic variants that could explain the child’s condition.
8. A patient with a suspected mitochondrial disorder undergoes whole genome and mitochondrial DNA sequence analysis to identify potential genetic variants affecting mitochondrial function.
9. A family seeks genetic counseling and testing for a possible genetic disorder after multiple members have been diagnosed with a rare disease.
10. A patient with an unexplained set of symptoms undergoes whole genome and mitochondrial DNA sequence analysis to identify potential genetic variants associated with their condition.