Summary & Overview
CPT 0267U: Combined Whole Genome Sequencing and Optical Genome Mapping
CPT code 0267U designates a proprietary laboratory test — Praxis Combined Whole Genome Sequencing and Optical Genome Mapping — that pairs next‑generation sequencing (NGS) whole genome sequencing with optical genome mapping to detect single‑nucleotide changes and large structural variants for diagnosing rare constitutional and heritable disorders. As a PLA code, 0267U is specific to Praxis Genomics LLC and reflects expanding clinical use of comprehensive genomic assays that combine multiple platforms to improve diagnostic yield. Nationally, such tests are increasingly relevant for patients with unexplained congenital anomalies, neurodevelopmental disorders, and complex genetic presentations where conventional testing has been nondiagnostic.
Key payers discussed include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare and Medicare. Readers will find a concise overview of clinical context, typical service setting, and the nature of the proprietary test. The publication summarizes payer coverage patterns and benchmarks where available, highlights policy considerations for PLA-coded tests, and outlines operational billing elements such as common modifiers and specimen requirements. The content aims to inform coding, utilization, and policy stakeholders about the clinical role and administrative handling of CPT code 0267U in national practice.
Billing Code Overview
CPT code 0267U is a Proprietary Laboratory Analyses (PLA) code that applies exclusively to the Praxis Combined Whole Genome Sequencing and Optical Genome Mapping test performed by Praxis Genomics LLC. The test combines next-generation sequencing (NGS) whole genome sequencing (WGS) with optical genome mapping (OGM) to identify single-nucleotide and structural chromosomal variants that may aid in diagnosing rare constitutional or other heritable disorders.
Service Type: Laboratory — combined whole genome sequencing and optical genome mapping
Typical Site of Service: Clinical laboratory or reference diagnostic laboratory using a blood specimen
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Clinical & Coding Specifications
Clinical Context
A child or adult with suspected rare constitutional or heritable disorder is evaluated after standard diagnostic testing (karyotype, microarray, targeted gene panels) fails to explain the clinical phenotype. The clinician orders the Praxis Combined Whole Genome Sequencing and Optical Genome Mapping test (0267U) on a peripheral blood specimen to detect sequence-level variants across the entire genome via next‑generation sequencing and to identify structural chromosomal variants using optical genome mapping. The typical workflow: outpatient genetics or neurology visits document family history, physical findings (developmental delay, congenital anomalies, dysmorphisms, or unexplained multisystem disease), and prior testing. After informed consent, a blood draw is performed in an ambulatory clinic, hospital outpatient lab, or inpatient setting. The specimen is sent to Praxis Genomics LLC for processing. The laboratory performs combined whole genome sequencing and optical genome mapping, generates an integrated report describing pathogenic or likely pathogenic variants and structural rearrangements, and provides interpretation to the ordering clinician. Results inform diagnosis, genetic counseling, cascade testing, and medical management decisions such as surveillance, referrals, or targeted therapies.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | Default/No modifier | Used when no other modifier applies to the billed service. |