Summary & Overview
CPT 0213U: Whole Genome and Mitochondrial Comparator Analysis
CPT code 0213U is a Proprietary Laboratory Analyses (PLA) code for Variantyx Inc.’s Genomic Unity® Whole Genome Analysis – Comparator, a specialized laboratory test that sequences the whole genome and mitochondrial DNA of a relative to create a reference genome for comparison with a proband. This test supports evaluation of rare constitutional and genetic disorders by enabling analysts to distinguish inherited variation and improve interpretation of proband variants. Nationally, PLA codes like 0213U matter because they identify manufacturer- or lab-specific assays that can influence coverage determinations, claim adjudication, and genomic medicine workflows.
Key payers discussed include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find an overview of clinical context for using a comparator relative’s genome, typical sites of service, and the implications of PLA status for billing and payer review. The publication outlines benchmarks for utilization and payment where available, summarizes relevant policy considerations for payer coverage of proprietary genomic tests, and provides clinical context on how comparator sequencing can affect diagnostic yield in rare genetic disease evaluation. Data not available in the input will be noted where applicable.
Billing Code Overview
CPT code 0213U is a Proprietary Laboratory Analyses (PLA) code for the Genomic Unity® Whole Genome Analysis – Comparator offered by Variantyx Inc. The test performs whole genome sequencing including mitochondrial DNA analysis on a relative of a proband patient to create a reference genome sequence that can be compared to the proband’s genome to evaluate rare constitutional or genetic disorders.
Service Type: Whole genome and mitochondrial DNA comparative analysis (laboratory diagnostic test)
Typical Site of Service: Clinical diagnostic laboratory or specialized genomic testing laboratory; specimen collected in an outpatient clinic or medical office and analyzed at the performing laboratory
Clinical & Coding Specifications
Clinical Context
A proband (index) patient presents to a genetics clinic for evaluation of a suspected rare constitutional or genetic disorder after clinical features (developmental delay, congenital anomalies, unexplained multisystem disease, or a family history of a genetic condition) prompt comprehensive genomic testing. The genetics team orders a whole genome analysis for the proband and requests a comparative reference genome derived from an unaffected or affected relative to improve variant interpretation accuracy. A blood or saliva specimen is collected from the relative and sent to Variantyx Inc. for the Genomic Unity® Whole Genome Analysis – Comparator (0213U). The laboratory performs whole genome sequencing and mitochondrial DNA analysis on the relative to create a reference genome sequence. Bioinformatic comparison between the relative’s reference genome and the proband’s genome enables the lab analyst and clinical geneticist to refine variant calls, distinguish inherited from de novo variants, and improve diagnostic yield. Typical workflow steps include: ordering and consent, specimen collection from both proband and relative, sample accessioning at the originating lab, sequencing and analysis at Variantyx using the proprietary assay, reporting of comparator-informed variant interpretations, and return of results to the ordering genetics provider for clinical correlation and counseling.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | Default/No modifier |