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 |
|---|---|---|
26 | Professional component | When billing separates the interpretation/reporting component from the technical sequencing if the laboratory or clinician bills only for interpretation. |
TC | Technical component | When billing only for the laboratory technical work (sequencing and raw data generation). |
QK | CLIA waived test performed at point of care; waived tests only | Not typically used for high-complexity genomic testing; included for completeness but generally not applicable. |
QX | CLIA certified lab performing MODIFIER QX | When the specimen processing was performed by a CLIA-certified independent laboratory different from the billing entity (lab-of-record arrangements). |
QY | CLIA certified lab producing results; physician billing with reference lab performing | When a physician or facility bills for the test but a certified lab actually performed the test and provided results. |
52 | Reduced services | When testing is partially performed or limited relative to the full protocol (rare for WGS; use only if test scope is formally reduced). |
53 | Discontinued procedure | When specimen collection or testing was started but discontinued for clinical reasons prior to completion. |
59* | Distinct procedural service | (Not in provided list — not included.) |
62 | Two surgeons | Generally not applicable to lab testing; used rarely if two qualified professionals share reporting responsibility for complex interpretation. |
80 | Assistant surgeon | Not applicable to laboratory testing; not used for 0212U. |
82 | Assistant surgeon (when qualified resident not available) | Not applicable to laboratory testing. |
AS | Physician assistant, nurse practitioner, or clinical nurse specialist services | When a mid-level practitioner authorized to order and interpret performs parts of the clinical coordination; rarely appended to lab codes. |
QY | (duplicate) See above | See above |
| Taxonomy Code | Specialty | Notes |
|---|---|---|
2080P0800X | Clinical Geneticist | Common ordering specialty for comprehensive genomic testing and result interpretation. |
2085R0200X | Pediatrician | Orders testing for developmental delay or congenital anomalies in children. |
207RG0300X | Neurologist | Orders testing for unexplained neurologic disorders, ataxia, or neuromuscular disease. |
208D00000X | Medical Geneticist (alternative taxonomy) | Clinical subspecialist coordinating genetic evaluation and family cascade testing. |
364SF0000X | Molecular Pathology / Laboratory Director | Laboratory specialists responsible for test validation, oversight, and technical reporting. |
Related Diagnoses
| ICD-10 Code | Description | Clinical Relevance |
|---|---|---|
Q87.8 | Other specified congenital malformation syndromes | Used when a proband presents with congenital anomalies not classified elsewhere and whole genome analysis is indicated to identify a genetic etiology. |
R62.0 | Delayed milestone in childhood | Applied for developmental delay where genomic testing may identify underlying genetic causes. |
G31.9 | Degenerative disease of nervous system, unspecified | Used for progressive neurologic decline when a genetic neurodegenerative disorder is suspected and WGS is ordered. |
I42.9 | Cardiomyopathy, unspecified | Used when cardiomyopathy has unclear etiology and genomic/mitochondrial variants are considered causal. |
E88.40 | Disorder of mitochondrial metabolism, unspecified | Directly relevant when mitochondrial DNA analysis is being pursued as part of the whole genome analysis. |
R56.9 | Unspecified convulsions | Used when unexplained seizures prompt comprehensive genetic evaluation. |
F80.9 | Developmental disorder of speech and language, unspecified | Included when isolated language delay warrants genomic testing in diagnostic workup. |
Related CPT Codes
| CPT Code | Description | Relationship to This Procedure |
|---|---|---|
81416 | Exome sequencing (eg, clinical exome); sequence analysis and interpretation | Alternative advanced genomic test; may be ordered prior to or instead of whole genome analysis depending on clinical strategy. |
81445 | Targeted genomic sequence analysis panel (e.g., disease-specific panel) | Often performed earlier in diagnostic workflow when phenotype suggests a focused panel before reflexing to whole genome analysis. |
0022U* | Proprietary laboratory analyses — example PLA code | (If present) Other proprietary genomic tests may be performed alongside or as alternatives; specific PLA codes vary by manufacturer. |
99000 | Handling and processing of specimens (example) | Ancillary billing codes for specimen handling or courier services that may accompany testing logistics. |
88360 | Morphometric analysis (example histology adjunct) | Occasionally used for correlated tissue studies when genomic findings prompt pathologic review. |