Summary & Overview
CPT 81224: CFTR Intron 8 Poly-T Mutation Analysis
CPT code 81224 identifies a molecular diagnostic laboratory test for the intron 8 poly–T mutation in the CFTR gene. This targeted assay detects a sequence variation that can affect CFTR messenger RNA splicing and has clinical relevance in cystic fibrosis carrier screening, diagnostic evaluation, and certain reproductive counseling contexts. As molecular genetics increasingly informs personalized care, precise coding of these assays supports accurate claims adjudication and clinical documentation.
Key payers addressed in this analysis include Aetna, Blue Cross Blue Shield, Cigna Health, UnitedHealthcare, and Medicare. The report outlines coverage and reimbursement patterns across major national payers, summarizes clinical context for use of the test, and highlights coding and billing considerations specific to this CPT molecular pathology code.
Readers will find a concise explanation of the code’s clinical purpose, typical site-of-service and service type, a synopsis of payer approaches to coverage, and operational considerations for laboratories and billing teams. Data not available in the input is noted where applicable. The content is intended for a national audience, focusing on payer policy alignment, clinical relevance, and documentation elements that impact claim processing for CPT code 81224.
Billing Code Overview
CPT code 81224 describes a laboratory molecular test that detects the presence of the intron 8 poly–T mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR). This test is a molecular diagnostic assay performed by a clinical laboratory analyst to identify a specific genetic variant that can influence CFTR splicing and may be relevant to cystic fibrosis carrier screening or diagnostic evaluation.
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Service type: Clinical molecular diagnostic testing
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Typical site of service: Clinical laboratory or reference molecular diagnostics laboratory
Clinical & Coding Specifications
Clinical Context
A patient is referred to a molecular diagnostics laboratory after newborn screening or carrier screening indicates possible cystic fibrosis (CF) risk, or when a clinician evaluates adult patients with a family history of CF or unexplained bronchiectasis. A blood or buccal swab specimen is collected in an outpatient clinic, genetics office, or hospital phlebotomy unit. The specimen is sent to the molecular lab where a technologist performs targeted CFTR intron 8 poly-T allele testing (81224) to detect the poly-T variant (e.g., 5T, 7T, 9T) that can affect CFTR splicing. Results are reported to the ordering provider (pediatrician, pulmonologist, maternal–fetal medicine specialist, or genetic counselor) and incorporated into diagnostic evaluation, carrier status counseling, or prenatal risk assessment. Typical workflow steps: specimen collection and accessioning, DNA extraction, PCR amplification targeting intron 8, allele sizing or sequencing as required, analytical interpretation, quality control review, and formal report issuance. Testing commonly occurs in outpatient and hospital laboratory settings with reporting to the ordering clinician for follow-up counseling and potential reflex testing of extended CFTR panels if indicated.
Coding Specifications
| Modifier | Description | When to Use |
|---|---|---|
26 | Professional component | When billing only the professional interpretation/reporting portion if separated from the technical lab processing. |