Summary & Overview
CPT 88248: Chromosome Analysis for Breakage Syndromes
Headline: CPT code 88248: Chromosome Analysis for Breakage Syndromes
Lead: CPT code 88248 describes a detailed cytogenetic chromosome analysis used to detect DNA instability characteristic of breakage syndromes such as ataxia telangiectasia, Fanconi anemia, and fragile X. The test requires extensive cell scoring and karyotype preparation and is performed in clinical or hospital laboratory settings.
CPT code 88248 represents a specialized cytogenetic service in which a lab analyst scores 50–100 cells, counts 20 cells, and prepares two karyotypes to identify chromosomal breakage and structural abnormalities. This analysis is clinically important for diagnosing inherited disorders that cause genomic instability, guiding patient management, genetic counseling, and eligibility for specialty treatments or surveillance.
Key payers covered in this overview include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find national-context information about clinical application and typical settings for the service. The publication outlines clinical context, common billing modifiers (listed separately), and how the procedure is categorized for laboratory billing. It also identifies where input data is unavailable when applicable.
What readers will learn: a concise clinical description of the service; the typical laboratory service line and sites of care; payer scope covered in this overview; and which elements of the billing and coding context are not provided in the input.
Billing Code Overview
CPT code 88248 describes a chromosome analysis for breakage syndromes. The procedure involves a laboratory analyst scoring between 50 and 100 cells, counting 20 cells, and preparing two karyotypes to evaluate chromosomal instability associated with disorders such as ataxia telangiectasia, Fanconi anemia, and fragile X syndrome.
Service Type: Cytogenetic analysis / Chromosome study
Typical Site of Service: Clinical laboratory or hospital laboratory
Clinical & Coding Specifications
Clinical Context
A pediatric hematology clinic evaluates a 6-year-old child with progressive pancytopenia, short stature, and recurrent infections. The clinician orders a cytogenetic breakage study to assess for Fanconi anemia. A laboratory receives the peripheral blood specimen, cultures lymphocytes, treats with diepoxybutane (DEB) or mitomycin C to induce chromosomal breakage, and the cytogenetics technologist performs 88248 by scoring 50–100 cells, counting 20 metaphases for breakage, and preparing two karyotypes. Results are reviewed by a board‑certified clinical cytogeneticist who issues the final report to the ordering hematologist. Typical site of service is a hospital outpatient laboratory or independent clinical cytogenetics laboratory supporting outpatient and inpatient specimens. Common clinical indications include suspected Fanconi anemia, ataxia‑telangiectasia, and fragile X syndrome when chromosomal breakage testing is required to evaluate genomic instability.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | When only the professional interpretation and report by the cytogeneticist is billed separately from the technical lab work. |
TC |