Summary & Overview
CPT 88249: Chromosome Analysis for Breakage Syndrome, 100-Cell Clastogen Stress
CPT code 88249 denotes a specialized cytogenetic service: chromosome analysis for breakage syndromes with scoring of 100 cells under clastogen-induced stress. This assay is used to detect increased chromosomal fragility and to aid diagnosis of inherited or acquired conditions characterized by chromosomal breakage. Nationally, the test matters for precise genetic diagnosis, informing care decisions for affected patients, and for laboratory billing and coverage policy given its specialized nature.
Key payers in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find an explanation of the clinical context for 88249, typical settings where the service is performed, and the relevance for payer coverage and claim adjudication. The publication outlines common modifiers and operational considerations associated with billing this laboratory procedure, and provides benchmarks and policy-oriented summaries where available.
The piece offers a concise resource for clinicians, laboratory billing staff, and policy analysts seeking to understand the role of this cytogenetic assay in diagnosis workflows, how it is documented and billed, and which payers commonly encounter claims for this service. Data not available in the input will be noted where applicable.
Billing Code Overview
CPT code 88249 describes a chromosome analysis for breakage syndromes in which a laboratory analyst scores 100 cells under clastogen stress. The test uses agents such as diepoxybutane, mitomycin C, ionizing radiation, UV radiation, or other methods to induce chromosomal breaks or disorder and reveal underlying genetic instability.
Service Type: Specialized cytogenetic laboratory testing for chromosomal breakage assessment
Typical Site of Service: Clinical laboratory or hospital laboratory setting, including genetics laboratories and reference labs
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Clinical & Coding Specifications
Clinical Context
A pediatric or adult patient with a personal or family history suggestive of a constitutional chromosome breakage syndrome (for example, Fanconi anemia or Bloom syndrome) is referred for specialized cytogenetic testing. The ordering clinician (typically a geneticist, hematologist, or pediatrician) documents signs such as unexplained aplastic anemia, congenital anomalies, growth failure, recurrent infections, or early-onset malignancy, and requests a clastogen-induced chromosome breakage assay. The laboratory receives a whole-blood sample or cultured peripheral blood lymphocytes. A cytogenetics technologist or lab analyst exposes cultured cells to a clastogen agent (for example, diepoxybutane or mitomycin C) or to ionizing/UV radiation under standardized conditions, harvests metaphase cells, prepares slides, and performs G-banding or other staining. The analyst scores 100 cells for chromosomal breaks, radial configurations, and other aberrations under microscopy, documents breakage rates, and generates a report comparing findings to established control ranges. Results are transmitted to the ordering clinician via the laboratory information system; positive or indeterminate results often prompt confirmatory testing, genetic counseling, and family cascade testing. Typical site of service is an outpatient clinical cytogenetics laboratory within a hospital, academic medical center, or independent reference laboratory; specimen collection usually occurs in an outpatient clinic or hospital phlebotomy area.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component |