2025 CPT code 88248
(Active) Effective Date: N/A Revision Date: N/A Laboratory - Cytogenetic Studies Pathology and Laboratory Procedures Feed
Chromosome analysis for breakage syndromes; evaluating baseline breakage by scoring 50-100 cells, counting 20 cells, and preparing 2 karyotypes.
Modifiers may apply depending on the circumstances of service provision.Consult the CPT manual and local payer guidelines.
Medical necessity is established based on the patient's clinical presentation, family history, and suspicion of a breakage syndrome.The test helps differentiate among various conditions with overlapping symptoms.
The clinical responsibility lies with the laboratory analyst who performs the technical aspects of the test, including cell culturing, slide preparation, staining, microscopic examination, and karyotype generation.The ordering physician is responsible for medical decision-making based on the results.
In simple words: This lab test checks the chromosomes in a blood or bone marrow sample to see if there are any breaks or problems. This helps diagnose conditions like ataxia telangiectasia, Fanconi anemia, or fragile X syndrome, which are all linked to chromosome instability.
This CPT code, 88248, represents a comprehensive chromosome analysis specifically designed to detect breakage syndromes. The procedure involves a meticulous evaluation of chromosomal integrity, including the assessment of baseline breakage rates.The analysis entails scoring 50 to 100 cells for the presence of chromosomal abnormalities, counting chromosomes in 20 cells for accurate numerical assessment, and generating two karyotypes for detailed visualization and interpretation of chromosomal arrangements. This test is crucial in diagnosing conditions characterized by genomic instability, such as ataxia telangiectasia, Fanconi anemia, and fragile X syndrome.The results help clinicians understand the extent of chromosomal damage and guide appropriate management strategies.
Example 1: A patient presenting with pancytopenia (low blood cell counts), developmental delays, and characteristic physical abnormalities undergoes a chromosome breakage analysis (88248) to evaluate for Fanconi anemia., A child with a history of recurrent infections and immunodeficiency is tested for ataxia telangiectasia using a chromosome breakage analysis (88248)., A patient with a family history of fragile X syndrome undergoes genetic testing, which includes a chromosome breakage analysis (88248) to confirm the diagnosis.
** The test may be used in conjunction with other diagnostic tests to confirm a diagnosis of a breakage syndrome. The interpretation of results requires expertise in cytogenetics.
- Revenue Code: T1H (LAB TESTS - OTHER (NON-MEDICARE FEE SCHEDULE))
- RVU: Information not available in provided sources.
- Global Days : Not applicable.
- Payment Status: Active
- Modifier TC rule: Not applicable.
- Fee Schedule : Information not available in provided data.Consult fee schedules from relevant payers.
- Specialties:Medical Genetics, Hematology, Oncology, Cytogenetics
- Place of Service:Laboratory, Hospital