Summary & Overview
CPT 0264U: Praxis Optical Genome Mapping for Chromosomal Structural Variants
CPT code 0264U is a Proprietary Laboratory Analyses (PLA) code that reports Praxis Optical Genome Mapping, an optical genome mapping (OGM) test performed on specimens such as blood to detect chromosomal structural variants for genetic disorder diagnosis. As a PLA code tied to a single manufacturer's assay, 0264U identifies a specific laboratory service rather than a generic methodology and is significant where high-resolution structural variant detection can influence diagnostic pathways and care decisions.
Key payers addressed in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise review of coverage and reimbursement benchmarks across these major payers, context on clinical utility and appropriate service settings, and notes on billing implications tied to the PLA designation. The publication highlights service-line considerations for laboratories and clinicians referring specimens for OGM and outlines how the proprietary nature of the test affects coding and payer recognition.
The report delivers practical reference material: a payer-focused summary of coverage approaches, typical sites of service and service type description, common billing modifiers and practice-level considerations, and pointers to clinical contexts where OGM may be applied. Data not available in the input is identified explicitly in relevant sections.
Billing Code Overview
CPT code 0264U is a Proprietary Laboratory Analyses (PLA) code reported only for Praxis Optical Genome Mapping from Praxis Genomics LLC. The test uses optical genome mapping (OGM) on a specimen such as blood to identify chromosomal structural variants that can aid in the diagnosis of genetic disorders.
Service Type: Laboratory — Proprietary genomic diagnostic test
Typical Site of Service: Clinical laboratory or reference testing laboratory
Clinical & Coding Specifications
Clinical Context
A patient with suspected or confirmed constitutional or syndromic genetic disease is referred for comprehensive structural genomic analysis after prior chromosomal microarray, karyotype, or targeted testing is non-diagnostic or incomplete. Typical patients include a newborn or child with multiple congenital anomalies, developmental delay, growth abnormalities, or a family with recurrent pregnancy loss, or an adult with unexplained neurodevelopmental disorder or cancer predisposition when structural variants are suspected. The clinical workflow: the ordering clinician (geneticist, maternal-fetal medicine specialist, or pediatrician) collects an approved specimen (commonly peripheral blood or cultured cells) and sends it to Praxis Genomics LLC. The lab performs optical genome mapping (OGM) to detect large structural variants, balanced translocations, insertions, inversions, and complex rearrangements. The laboratory analyzes results, generates a report with variant interpretation and clinical significance, and returns findings to the ordering provider for integration into diagnosis, genetic counseling, and management planning. Insurance prior authorization or laboratory benefit verification is often completed before testing due to proprietary PLA status.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | No modifier. | Use when no special circumstances apply. |