Summary & Overview
CPT 81347: SF3B1 Gene Variant Testing for Myeloid Neoplasms
CPT code 81347 denotes a molecular pathology test that detects common variants in the SF3B1 gene from a patient specimen, typically blood. SF3B1 variants are clinically relevant because they are associated with myelodysplastic syndromes and other myeloid neoplasms; identification of these variants informs diagnostic classification and may influence downstream clinical management. Nationally, CPT code 81347 is important as molecular profiling becomes standard in hematologic malignancy evaluation and laboratories adopt targeted sequencing assays.
Key payers discussed include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find an overview of the clinical context for SF3B1 testing, typical sites and service types for provision, and the items commonly addressed in payer coverage and coding guidance. The publication summarizes benchmark themes, outlines common modifiers used with laboratory molecular tests, and flags areas where policy updates or coding clarifications are frequently queried.
This summary is intended for clinical laboratory managers, billing and compliance professionals, and policy analysts seeking a concise national view of CPT code 81347, its clinical role, and the payer landscape relevant to molecular testing for myeloid neoplasms.
Billing Code Overview
CPT code 81347 describes a laboratory molecular test that detects common variants in the SF3B1 (splicing factor [3b] subunit B1) gene from a patient specimen, such as blood. The assay identifies specific sequence changes (for example, A672T, E622D, L833F, R625C, R625L) that can be associated with myelodysplastic syndrome (MDS) and other myeloid neoplasms.
Service type: Molecular pathology / targeted gene sequencing
Typical site of service: Clinical laboratory or hospital laboratory
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Clinical & Coding Specifications
Clinical Context
A 68-year-old patient with progressive anemia, thrombocytopenia, and unexplained cytopenias is referred to hematology for evaluation of possible myelodysplastic syndrome (MDS). The hematologist orders molecular testing on a peripheral blood or bone marrow aspirate specimen to detect common variants in the SF3B1 gene (e.g., A672T, E622D, L833F, R625C, R625L) to support diagnosis, prognostic classification, and potential therapeutic decisions. The specimen is collected in the outpatient infusion center or hospital blood-draw station and sent to a licensed molecular pathology laboratory. A laboratory analyst performs the technical sequencing or targeted genotyping assay, interprets technical quality metrics, and generates the laboratory report. Results are routed to the ordering provider; the hematologist integrates the reported SF3B1 mutation status with morphologic, cytogenetic, and other molecular findings to refine diagnosis (for example, MDS with ring sideroblasts) and to inform monitoring and management decisions. Typical site of service: outpatient hospital laboratory, independent reference laboratory, or hospital-based molecular diagnostics laboratory.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
00 | Default/No modifier | Use when no special modifier applies to the billed service |