81220

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants

The CPT code 81220 describes a molecular diagnostic procedure for the qualitative or quantitative analysis of common variants within the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. This test typically screens for a panel of pathogenic mutations most frequently associated with cystic fibrosis (CF) and CFTR-related disorders, as defined by professional guidelines (e.g., American College of Medical Genetics and Genomics). The purpose of this analysis is to identify known common disease-causing variants, which can include point mutations, small deletions, or insertions, to aid in diagnosis, carrier screening, or follow-up to newborn screening results.

Clinical Indications

  • Diagnostic confirmation of cystic fibrosis in individuals presenting with symptoms consistent with CF (e.g., recurrent respiratory infections, pancreatic insufficiency, malabsorption, meconium ileus, growth failure).
  • Evaluation of CFTR-related disorders such as congenital bilateral absence of the vas deferens (CBAVD), idiopathic pancreatitis, or isolated bronchiectasis, in individuals without classic CF symptoms.
  • Carrier screening for cystic fibrosis in individuals of reproductive age, particularly those with a family history of CF or from populations with a higher prevalence of CF, as part of reproductive planning.
  • Follow-up testing for infants with a positive newborn screening result for cystic fibrosis (e.g., elevated immunoreactive trypsinogen - IRT levels).
  • Prenatal diagnosis or pre-implantation genetic diagnosis (PGD) when one or both parents are known carriers of common CFTR mutations.

Procedure Steps

  1. Collection of a biological specimen (e.g., blood, buccal swab, amniotic fluid, chorionic villus sample) from the patient.
  2. Extraction and purification of genomic DNA from the collected specimen.
  3. Amplification of specific CFTR gene regions where common variants are known to occur using polymerase chain reaction (PCR) or similar methods.
  4. Detection of common CFTR variants using molecular techniques such as allele-specific oligonucleotide hybridization, multiplex ligation-dependent probe amplification (MLPA), targeted next-generation sequencing, or microarray-based methods.
  5. Analysis and interpretation of the detected variants by a qualified laboratory professional.
  6. Generation of a comprehensive molecular diagnostic report detailing the presence or absence of common CFTR gene variants.

Coding Guidelines

  • Code 81220 is specifically for the analysis of common CFTR gene variants. If a more extensive or full gene sequencing analysis is performed, different CPT codes (e.g., 81221 for known familial variants, 81222 for duplication/deletion analysis, 81223 for full gene sequencing) should be utilized.
  • This code should not be reported in conjunction with more comprehensive CFTR gene analysis codes on the same date of service, as common variants are implicitly included in full gene sequencing or extensive variant analyses.
  • Medical necessity for testing must be clearly documented in the patient's medical record, including the specific clinical indication (e.g., symptoms, family history, newborn screen results).
  • Repeat testing with code 81220 is generally not indicated unless there is a specific clinical justification, such as ambiguous initial results, a new clinical presentation, or a need for confirmation from a different specimen.
  • Providers should consult payer-specific policies regarding coverage criteria for CFTR gene analysis, especially for carrier screening or prenatal testing.

Associated ICD-10 Codes