Summary & Overview
CPT 81238: Full-Gene Sequencing of Coagulation Factor IX (F9)
CPT code 81238 represents full-gene sequencing of the coagulation factor IX (F9) gene, a molecular diagnostic assay used to identify sequence variants that cause or contribute to hemophilia B and other factor IX–related coagulation disorders. Nationally, comprehensive F9 sequencing is clinically important for confirming diagnoses, informing family counseling, and guiding treatment planning for affected individuals.
Key payers considered in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Coverage policies and reimbursement practices for full-gene sequencing vary across these payers and by clinical indication, making clear documentation of diagnostic intent and prior testing history important for claims adjudication.
Readers will find an overview of the clinical context for CPT code 81238, summaries of common payer coverage approaches, and benchmarks for typical sites of service. The publication outlines service definitions, typical laboratory settings, and common modifiers used with molecular diagnostic billing. It also highlights relevant coding relationships and areas where policy updates or payer-specific coverage criteria commonly affect claim outcomes. Data not available in the input are noted where applicable.
Billing Code Overview
CPT code 81238 describes sequencing and analysis of the full coding region of the coagulation factor IX (F9) gene. The service involves laboratory technical work to determine the complete gene sequence for F9, supporting diagnosis of hereditary coagulation disorders related to factor IX.
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Service type: Full-gene sequencing laboratory test
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Typical site of service: Clinical molecular genetics laboratory or specialized diagnostic laboratory
Clinical & Coding Specifications
Clinical Context
A typical patient is a male referred to a molecular diagnostics laboratory for evaluation of suspected hereditary hemophilia B after a history of bleeding disproportionate to injury, prolonged bleeding after surgery or dental extraction, or a positive family history of coagulation disorders. The clinical workflow begins with a hematology consultation documenting personal and family bleeding history and baseline factor IX activity testing. After abnormal factor IX activity or a strong clinical suspicion, the provider orders full gene sequencing of the F9 gene. A blood draw is collected in an EDTA tube at an outpatient phlebotomy site or at an ambulatory hematology clinic and sent to a CLIA-certified molecular laboratory. The lab performs DNA extraction, PCR amplification and next-generation sequencing (or Sanger sequencing when indicated) to analyze the full coding sequence, intron–exon boundaries, and known regulatory regions of the F9 gene. Results are reviewed by a laboratory director and a molecular pathologist, with a written report issued to the ordering clinician that includes identified pathogenic, likely pathogenic, variants, or variants of uncertain significance and interpretation relevant to diagnosis, carrier status, and therapeutic implications.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when reporting only the professional (interpretation) component separate from the technical lab processing (rare for molecular lab CPTs when billed separately by a physician). |