Summary & Overview
CPT 0481U: IDH1/IDH2/TERT Mutation Analysis, NGS Tumor
CPT code 0481U designates a proprietary next‑generation sequencing (NGS) tumor test from Mayo Clinic that detects mutations in IDH1, IDH2, and TERT. As a PLA code, 0481U applies to a single manufacturer's or laboratory's unique assay and is used to report targeted molecular profiling of tumor specimens to inform diagnosis, prognosis, and potential therapeutic decisions. Nationally, PLA codes like 0481U have relevance for coverage policy, coding consistency, and molecular diagnostics utilization.
Key payers referenced in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Readers will find an overview of clinical purpose and test methodology, payer coverage landscape and common modifier usage, and benchmarking context where available. The publication also summarizes coding considerations specific to PLAs, typical sites of service for NGS tumor testing, and implications for claims processing and documentation.
This resource is intended to provide a concise, national‑level summary of the code, its clinical application, and the aspects of payer and billing practice that affect coding, reimbursement, and administrative workflows. Data not available in the input are noted where applicable.
Billing Code Overview
CPT code 0481U is a Proprietary Laboratory Analyses (PLA) code for IDH1, IDH2, and TERT Mutation Analysis, Next–Generation Sequencing, Tumor (IDTRT) performed by Mayo Clinic. The test uses next‑generation sequencing to detect single‑nucleotide variants (SNVs), deletions, and insertions in the IDH1, IDH2, and TERT genes from tumor tissue samples.
Service type: Next‑generation sequencing molecular diagnostic assay (tumor mutation analysis)
Typical site of service: Clinical laboratory / hospital laboratory or outpatient specimen collection with laboratory testing performed at the reporting laboratory
Clinical & Coding Specifications
Clinical Context
A patient with a suspected or confirmed central nervous system or other solid tumor undergoes surgical biopsy or resection. Tumor tissue is sent to the Mayo Clinic molecular diagnostics laboratory for next-generation sequencing using the proprietary IDTRT assay (0481U) to detect mutations in IDH1, IDH2, and TERT. Typical indications include molecular characterization of gliomas, other primary brain tumors, or metastatic lesions where identification of IDH1/IDH2 hotspot mutations or TERT promoter mutations will inform diagnostic classification, prognosis, and potential eligibility for targeted therapies or clinical trials. The clinical workflow: tissue is collected in the operating room or interventional suite, fixed or frozen per lab requirements, shipped to the Mayo Clinic laboratory; the lab performs DNA extraction, library preparation, NGS, bioinformatic variant calling for single-nucleotide variants, insertions, and deletions in IDH1, IDH2, and TERT, and returns a molecular pathology report to the ordering neuro-oncologist, neurosurgeon, or oncologist for incorporation into final diagnosis and treatment planning.