Summary & Overview
CPT 81223: CFTR Full-Gene Sequencing
CPT code 81223 identifies comprehensive sequencing of the full cystic fibrosis transmembrane conductance regulator gene (CFTR). Nationally, this code represents an advanced genetic diagnostic service used to identify pathogenic sequence variants that cause cystic fibrosis or related disorders. Full-gene CFTR sequencing is clinically important for diagnostic confirmation, carrier screening in select contexts, and guiding genetic counseling and care planning.
Key payers included in the discussion are Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. The publication outlines how CPT code 81223 is covered across major payers, common billing modifiers in use, and typical sites where the test is performed.
Readers will learn practical details about the clinical context for ordering full CFTR sequencing, typical laboratory service settings, and which payers commonly reimburse or apply specific coverage policies. The report also summarizes benchmark considerations for utilization and notes where payer policy language commonly addresses medical necessity, prior authorization, or testing hierarchy (for example, when targeted mutation panels are considered before full sequencing). Data not available in the input is clearly identified where applicable.
Billing Code Overview
CPT code 81223 describes a laboratory molecular test that analyzes the entire gene sequence of the cystic fibrosis transmembrane conductance regulator gene (CFTR). This service is a comprehensive CFTR gene sequencing assay intended to detect sequence variants across the full coding region and adjacent intronic sequences.
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Service type: Comprehensive molecular diagnostic sequencing
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Typical site of service: Clinical diagnostic laboratory or molecular pathology lab (ambulatory or hospital-associated laboratory)
Clinical & Coding Specifications
Clinical Context
A typical scenario involves a pediatric or adult patient referred for complete sequencing of the cystic fibrosis transmembrane conductance regulator gene (CFTR) due to clinical suspicion of cystic fibrosis, carrier screening, abnormal newborn screening, or family history of CFTR pathogenic variants. The workflow begins when the ordering clinician (often a geneticist, pulmonologist, neonatologist, or obstetrician) documents the indication and obtains informed consent. A blood or buccal DNA specimen is collected in the outpatient clinic, newborn nursery, or specialized genetics lab. The specimen is sent to a molecular diagnostics laboratory where a molecular technologist extracts DNA, performs next-generation sequencing to analyze the entire CFTR coding region and relevant intronic regions, and the laboratory analyst interprets the raw sequence data. A board-certified molecular geneticist or laboratory director reviews clinically significant variants, classifies them per ACMG/AMP guidelines, and issues a report to the ordering provider. Turnaround time varies by indication (carrier screening versus diagnostic testing) and site of service; testing commonly occurs in a certified clinical molecular laboratory within an independent reference lab, hospital-based lab, or university medical center. Typical sites of service include outpatient clinic collection centers, hospital outpatient phlebotomy, newborn screening programs, and centralized molecular diagnostic laboratories.
Coding Specifications
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