Summary & Overview
CPT 0212U: Genomic Unity® Whole Genome Analysis – Proband
CPT code 0212U identifies a Proprietary Laboratory Analyses (PLA) test — Genomic Unity® Whole Genome Analysis – Proband from Variantyx Inc. This code denotes comprehensive whole genome sequencing plus mitochondrial DNA analysis intended to evaluate rare, unexplained constitutional or genetic disorders in a proband. As a PLA code, it applies to a single manufacturer's unique test and therefore has implications for coding specificity, claims adjudication, and price transparency nationwide. Key payers in scope include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise overview of the clinical purpose of the test, payer coverage considerations, and common billing and claim elements associated with PLA-designated CPT codes. The publication summarizes typical sites of service, service line context for diagnostic genomic testing, and lists commonly used modifiers and other billing attributes provided in the input. It also outlines available benchmark and policy topics relevant to proprietary laboratory codes, and notes where input data was not provided. This national-level summary is intended to inform billing staff, laboratory administrators, and policy analysts about the role and billing context of CPT code 0212U without giving clinical or billing recommendations.
Billing Code Overview
CPT code 0212U is a Proprietary Laboratory Analyses (PLA) code for the Genomic Unity® Whole Genome Analysis – Proband test from Variantyx Inc. The code covers analysis of the whole genome and mitochondrial DNA to evaluate rare or unexplained constitutional or genetic disorders in a proband, the first affected family member to receive genetic testing.
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Service type: Clinical whole genome sequencing and mitochondrial DNA analysis performed as a diagnostic genomic test for a proband with suspected rare or genetic conditions.
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Typical site of service: Clinical diagnostic laboratory or specialized genomic testing laboratory; results are used to inform clinical evaluation and genetic counseling.
Clinical & Coding Specifications
Clinical Context
A pediatric or adult patient presents with an unexplained, likely genetic condition (for example, developmental delay, multiple congenital anomalies, progressive neurologic decline, cardiomyopathy of unclear etiology, or suspected mitochondrial disorder). Prior targeted testing (chromosomal microarray, single-gene testing, or targeted gene panels) is non-diagnostic or inconclusive. The ordering clinician (medical geneticist, genetic counselor, pediatric neurologist, or other specialist) documents a proband-focused evaluation and requests a comprehensive analysis of the whole genome including mitochondrial DNA. A blood or saliva specimen is collected per the laboratory’s instructions and sent to Variantyx Inc. for the Genomic Unity® Whole Genome Analysis – Proband (0212U). The laboratory performs whole genome sequencing and mitochondrial DNA analysis, bioinformatic variant calling and interpretation, and issues a clinical report summarizing pathogenic or likely pathogenic variants, variants of uncertain significance relevant to the phenotype, and recommended follow-up. Results are returned to the ordering clinician, who integrates findings with clinical data to guide diagnosis, cascade testing of family members if indicated, management, and possible referral for specialty care or clinical trial consideration. Typical sites of service include outpatient clinics, specialty genetics centers, and hospital outpatient draw stations; specimen collection may also occur in an inpatient setting for hospitalized patients with urgent diagnostic needs.
Coding Specifications
| Modifier | Description | When to Use |
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