Summary & Overview
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.
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
Clinical & Coding Specifications
Clinical Context
A newborn screen returns positive or a family history identifies carriers of cystic fibrosis (CF). A pediatrician or genetic counselor orders targeted CFTR mutation panel testing for a neonate or adult concerned about carrier status. Blood is collected (often via heel stick or venipuncture) and sent to a clinical molecular diagnostics laboratory. The laboratory technologist performs 81220 — a targeted CFTR mutation panel (commonly the 23-mutation panel recommended by American College of Medical Genetics/American College of Obstetricians) — which analyzes DNA for common CFTR pathogenic variants. Results are reviewed by a molecular pathologist or genetics specialist who issues a report to the ordering clinician; positive or ambiguous findings prompt genetic counseling and may lead to follow-up reflex testing (full CFTR sequencing or deletion/duplication analysis) or confirmatory sweat chloride testing in an infant.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | Use when billing only the professional interpretation/reporting by a physician or qualified provider separate from the laboratory technical component. |
TC |