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 |
|---|---|---|
00 | Default/regular billing | Use when no specific modifier applies and service is billed normally. |
22 | Increased procedural services | Use when documentation supports substantially greater effort for test-related interpretation or reporting. |
26 | Professional component | Use when billing only the professional interpretation component separate from the technical component. |
52 | Reduced services | Use when the test was partially reduced or not completed as ordered. |
53 | Discontinued procedure | Use when testing was started but discontinued for patient- or specimen-related reasons. |
62 | Two surgeons | Use when two qualified providers equally share responsibility for a service component requiring dual expertise (rare for lab testing; may apply to shared interpretation arrangements). |
78 | Unplanned return to operating/procedure room by same physician following initial procedure (related procedural care) | Uncommonly applicable; use only if linked procedural care requires re-intervention tied to test-derived results. |
80 | Assistant at surgery | Rare for lab tests; use if a qualified assistant participates in a procedure influenced by mapping results. |
82 | Assistant at surgery (qualified resident) | As above, use only in exceptional workflow-related procedural contexts. |
TC | Technical component | Use when billing only the technical component of the test (laboratory processing and data generation) separate from interpretation. |
QK | Portable x-ray (interpretation) | Not applicable to this test; included only if an auxiliary imaging interpretation is billed in conjunction (rare). |
QX | Qualified non-physician provider | Use when a qualified non-physician practitioner performs an allowable portion of services under applicable rules. |
QY | Attending provider inpatient billing for critical care (service-specific) | Rare; use only if facility billing rules require such a designation. |
| Taxonomy Code | Specialty | Notes |
|---|---|---|
| 207RC0000X | Clinical Cytogenetics Laboratory Director | Laboratory directors or directors of cytogenetics/clinical genomics labs who oversee OGM testing. |
| 207L00000X | Clinical Molecular Genetics Laboratory | Molecular/genomic pathology specialists responsible for genomic testing operations and interpretation. |
| 2080P0207X | Medical Geneticist | Physicians who order, interpret, and use results for diagnosis and genetic counseling. |
| 2084P0800X | Pediatric Neurologist | Specialists evaluating developmental delay or neurodevelopmental disorders who may order OGM. |
| 207X00000X | Pathology | Anatomic and clinical pathologists who may supervise laboratory testing and interpretation. |
Related Diagnoses
| ICD-10 Code | Description | Clinical Relevance |
|---|---|---|
Q99.4 | Chromosomal deletion syndrome | Structural chromosomal abnormalities detected by OGM can explain deletion syndromes. |
Q93.4 | Chromosomal mosaicism, unspecified | OGM can identify mosaic structural variants impacting diagnosis and prognosis. |
Q85.8 | Other phakomatoses, not elsewhere classified | Certain syndromic congenital anomalies with suspected chromosomal rearrangements may be evaluated with OGM. |
R62.0 | Delayed milestone in childhood | Developmental delay is a common indication for genome-level structural variant testing. |
F84.0 | Autism spectrum disorder | Patients with autism and additional anomalies may undergo structural genomic evaluation. |
Related CPT Codes
| CPT Code | Description | Relationship to This Procedure |
|---|---|---|
81432 | Cytogenomic constitutional (genome-wide) microarray analysis, constitutional (e.g., chromosomal microarray) | Often used as a first-line genomic structural variant screen; OGM may be ordered when microarray is nondiagnostic or when higher-resolution structural mapping is required. |
81435 | Chromosomal microarray analysis, postnatal; targeted or whole-genome copy number analysis (note: applicable microarray codes vary) | Similar role to 81432 as a complementary or prior test in the diagnostic workflow. |
81229 | Chromosome analysis, constitutional (karyotype) | Conventional karyotype identifies large chromosomal rearrangements; OGM provides higher-resolution detection of balanced and complex structural variants beyond karyotype capability. |
88367 | Microdissection, microdissection of tissue, and morphology-based microanalysis (ancillary) | May be used in specialized workflows when tissue-based dissection or ancillary morphological review is needed alongside genomic mapping (rare adjunct). |
89240 | Blood drawing, venipuncture; routine collection for diagnostic lab tests | Represents the specimen collection procedure typically performed prior to shipping for OGM testing. |