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CPT 81220: CFTR Mutation Panel, Targeted Genetic Testing
CPT code 81220 represents a targeted molecular diagnostic assay for detecting mutations in the CFTR gene associated with cystic fibrosis. This laboratory technical service is widely used in prenatal, newborn screening follow-up, and diagnostic settings to identify carriers and affected individuals. Nationally, CFTR mutation panels like the one described are important for guiding diagnostic pathways, genetic counseling, and cascade testing decisions.
Key payers discussed include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. Coverage and coding guidance from major commercial and public payers influence access, billing edits, and prior authorization practices for CFTR testing.
Readers will find a concise overview of the clinical context for CFTR targeted mutation panels, the common sites and service type for CPT code 81220, and what to expect in payer considerations. The publication summarizes benchmark topics such as coding definitions, typical use cases in clinical workflows, and areas where policy updates or coverage criteria commonly apply. Data not available in the input is noted where applicable.
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Billing Code Overview
CPT code 81220 describes a laboratory molecular test that detects changes in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, typically using a targeted panel of the most commonly associated mutations (currently a panel of 23 mutations as identified by professional guidelines). The service involves laboratory technical work to analyze patient DNA for CFTR sequence variants associated with cystic fibrosis.
Service type: Genetic testing — targeted CFTR mutation panel (molecular diagnostic, technical component)
Typical site of service: Clinical molecular diagnostics laboratory or hospital-based laboratory performing genetic testing