Summary & Overview
CPT 81249: Full G6PD Gene Sequencing
CPT code 81249 designates full gene sequencing of the glucose–6–phosphate dehydrogenase (G6PD) gene, a clinical molecular diagnostic test used to detect sequence variants that can cause G6PD deficiency. Nationally, this code supports genetic diagnosis, carrier detection, and therapeutic decision-making for patients with suspected hemolytic disorders related to G6PD dysfunction. Labs and payers use the code to classify comprehensive sequencing when single-site or targeted assays are insufficient.
Key payers covered in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find a concise overview of the code’s clinical context, typical sites of service, common billing modifiers, and the role of full-gene sequencing in diagnosis. The publication also outlines benchmarking elements and policy-relevant considerations that affect coverage and billing for molecular genetic tests.
This summary equips clinicians, laboratory billing staff, and policy analysts with the essential facts about CPT code 81249, how it is applied in practice, and the topics likely to affect billing and reimbursement for comprehensive G6PD gene sequencing.
Billing Code Overview
CPT code 81249 describes laboratory testing to analyze the full gene sequence of the glucose–6–phosphate dehydrogenase (G6PD) gene. This service involves sequencing and analytic procedures performed by a clinical molecular laboratory to identify sequence variants across the entire G6PD coding region.
Service type: Clinical molecular genetic sequencing and interpretation performed by a laboratory (technical and analytic testing)
Typical site of service: Clinical laboratory or reference molecular diagnostics laboratory (specimens collected in outpatient clinics, hospitals, or other collection sites and sent to the laboratory for analysis).
Clinical & Coding Specifications
Clinical Context
A patient, often male with a family history of hemolytic anemia or neonatal hyperbilirubinemia, is referred for full gene sequencing of the glucose-6-phosphate dehydrogenase gene to identify pathogenic variants. Typical scenarios include: a neonate with unexplained jaundice or elevated bilirubin levels; an adult with episodic hemolysis after oxidative stress (medication, infection, or fava bean exposure); or prenatal/ preconception counseling when a partner is a known G6PD variant carrier. The clinical workflow begins with ordering provider documentation specifying the indication and relevant history, collection of a blood sample (EDTA tube) or buccal swab, specimen labeling and shipment to a molecular diagnostics laboratory, DNA extraction, full G6PD gene sequencing using validated methods, bioinformatic analysis and variant interpretation, and issuance of a diagnostic report to the ordering clinician. Turnaround time varies with laboratory capacity and test complexity. Insurance verification and appropriate medical necessity justification are obtained prior to testing when required.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | When reporting only the interpretive/professional portion of the test if billing is split between laboratory and physician/pathologist |
90 |