Summary & Overview
CPT 0454U: Chromosome Genome Mapping by Optical Genome Mapping
CPT code 0454U designates a Proprietary Laboratory Analyses (PLA) test specific to UR Medicine Labs: Chromosome Genome Mapping performed with optical genome mapping (OGM). This one-of-a-kind laboratory code identifies chromosomal structural variants to support diagnosis of genetic disorders, representing an emerging genomic diagnostic modality with implications for specialty lab billing, coverage policy, and clinical genetics care nationally. Key payers in typical coverage discussions include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. This publication explains what 0454U represents, where it is used, and why it matters for payers and providers. Readers will find a concise clinical description, typical site-of-service and service-type context, a summary of common billing modifiers, and national payer coverage considerations. The guide also outlines practical coding details for labs and clinicians submitting 0454U, and highlights how a PLA code differs from general CPT laboratory codes. Data not available in the input is noted where applicable. The focus is national: policymakers, laboratory managers, and billing professionals will gain clarity on the clinical role of OGM-based chromosome mapping, operational implications of a PLA code tied to a single laboratory, and the payer landscape that typically engages with high-complexity genetic testing.
Billing Code Overview
CPT code 0454U is a Proprietary Laboratory Analyses (PLA) code that applies only to a single, manufacturer- or laboratory-specific test. Report 0454U only for Chromosome Genome Mapping from UR Medicine Labs. The test uses optical genome mapping (OGM) on a clinical specimen, such as blood, to identify chromosomal structural variants that aid in the diagnosis of genetic disorders.
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Service type: Laboratory diagnostic test using optical genome mapping (OGM)
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Typical site of service: Clinical laboratory or hospital laboratory performing specialized genetic testing
Clinical & Coding Specifications
Clinical Context
A pediatric or adult patient with suspected or known chromosomal structural abnormalities is referred for Chromosome Genome Mapping using optical genome mapping (OGM) at UR Medicine Labs. Typical scenarios include individuals with unexplained developmental delay, congenital anomalies, multiple congenital malformations, intellectual disability, autism spectrum disorder, recurrent pregnancy loss with suspected parental structural rearrangement, or complex cancer cases where structural variant resolution is needed. A clinician (geneticist, neurologist, obstetrician, or oncologist) orders the test after review of the patient’s history, prior cytogenetic or microarray results, and when higher-resolution detection of balanced and complex structural variants is required.
Specimen collection is usually a peripheral blood draw performed in an outpatient clinic, hospital, or specialty genetics center. The specimen is shipped to UR Medicine Labs following chain-of-custody and specimen stability requirements. The laboratory performs optical genome mapping to detect structural variants (deletions, duplications, inversions, translocations, and complex rearrangements) across the genome. Results are interpreted by clinical laboratory geneticists and reported to the ordering provider with variant classification and clinical correlation to aid diagnosis, genetic counseling, and management decisions. Turnaround time is typically days to a few weeks depending on lab workflow and case complexity.
Coding Specifications
| Modifier | Description | When to Use |
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