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Official Description

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence

© Copyright 2025 American Medical Association. All rights reserved.

Common Language Description

The CPT® Code 81223 refers to the molecular genetic testing performed to analyze the full gene sequence of the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which is located on chromosome 7. This gene is crucial as it encodes the protein responsible for regulating the movement of chloride ions across epithelial cell membranes. Mutations in the CFTR gene lead to cystic fibrosis, a genetic disorder characterized by the production of thick, sticky mucus that can obstruct airways and glands, significantly impacting respiratory and digestive functions. Cystic fibrosis is one of the most prevalent autosomal recessive diseases, particularly among Caucasian populations and those of Ashkenazi Jewish descent. Individuals who inherit a mutated CFTR gene from both parents may exhibit varying degrees of symptoms, ranging from mild to severe, while those inheriting a mutation from only one parent become carriers without showing symptoms. The severity of cystic fibrosis can be influenced by the specific mutations present, with certain homozygous pairings, such as del508F/del508F, being associated with more severe disease manifestations. The condition often leads to serious complications, including respiratory infections, pancreatic insufficiency, and other related health issues. The life expectancy for individuals with cystic fibrosis, even in mild cases, averages around 30 years. The full gene sequence analysis provided by CPT® Code 81223 is essential for identifying a wide range of CFTR mutations, as it encompasses the examination of all exons, intron/exon borders, promoter regions, and specific intronic regions, thereby allowing for a comprehensive understanding of the genetic factors contributing to cystic fibrosis.

© Copyright 2025 Coding Ahead. All rights reserved.

1. Indications

The CFTR gene analysis using CPT® Code 81223 is indicated for the following conditions and scenarios:

  • Cystic Fibrosis Diagnosis Molecular genetic testing is performed to confirm a diagnosis of cystic fibrosis in individuals presenting with symptoms consistent with the disease.
  • Carrier Testing Individuals with a family history of cystic fibrosis may undergo testing to determine if they are carriers of the CFTR gene mutation.
  • Family Planning Couples with a known history of cystic fibrosis in their family may seek testing to assess the risk of having an affected child.
  • Newborn Screening Infants identified through newborn screening programs may require further genetic testing to confirm the presence of CFTR mutations.
  • Assessment of Disease Severity Genetic testing can help determine the specific mutations present, which may correlate with the severity of the disease and guide treatment options.

2. Procedure

The procedure for CPT® Code 81223 involves several detailed steps to ensure accurate analysis of the CFTR gene:

  • Sample Collection A biological sample, typically blood or saliva, is collected from the patient to obtain DNA for analysis.
  • DNA Extraction The DNA is extracted from the collected sample using standardized laboratory techniques to isolate the genetic material for testing.
  • Full Gene Sequencing The extracted DNA undergoes full gene sequencing, which involves analyzing the entire CFTR gene, including all exons, intron/exon borders, promoter regions, and specific intronic regions. This comprehensive approach allows for the identification of a wide range of mutations.
  • Data Analysis The sequencing data is analyzed using bioinformatics tools to detect any mutations or variations in the CFTR gene that may be associated with cystic fibrosis.
  • Reporting Results The results of the genetic analysis are compiled into a report, detailing any identified mutations and their potential implications for the patient’s health and treatment options.

3. Post-Procedure

After the procedure associated with CPT® Code 81223, patients may receive genetic counseling to discuss the implications of the test results. This counseling can help individuals and families understand the significance of any identified mutations, the likelihood of developing cystic fibrosis, and the potential for being a carrier. Follow-up care may include additional testing for family members, ongoing monitoring for symptoms, and discussions regarding treatment options based on the specific mutations identified. It is also important for patients to be aware of the potential psychosocial impacts of genetic testing and to have access to support resources as needed.

Short Descr CFTR GENE FULL SEQUENCE
Medium Descr CFTR GENE ANALYSIS FULL GENE SEQUENCE
Long Descr CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; full gene sequence
Status Code Statutory Exclusion (from MPFS, may be paid under other methodologies)
Global Days XXX - Global Concept Does Not Apply
PC/TC Indicator (26, TC) 9 - Not Applicable
Multiple Procedures (51) 9 - Concept does not apply.
Bilateral Surgery (50) 9 - Concept does not apply.
Physician Supervisions 09 - Concept does not apply.
Assistant Surgeon (80, 82) 9 - Concept does not apply.
Co-Surgeons (62) 9 - Concept does not apply.
Team Surgery (66) 9 - Concept does not apply.
Diagnostic Imaging Family 99 - Concept Does Not Apply
CLIA Waived (QW) No
APC Status Indicator Service Paid under Fee Schedule or Payment System other than OPPS
Type of Service (TOS) 5 - Diagnostic Laboratory
Berenson-Eggers TOS (BETOS) T1H - Lab tests - other (non-Medicare fee schedule)
MUE 1
CCS Clinical Classification 234 - Pathology
90 Reference (outside) laboratory: when laboratory procedures are performed by a party other than the treating or reporting physician or other qualified health care professional, the procedure may be identified by adding modifier 90 to the usual procedure number.
XU Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
GW Service not related to the hospice patient's terminal condition
XS Separate structure, a service that is distinct because it was performed on a separate organ/structure
59 Distinct procedural service: under certain circumstances, it may be necessary to indicate that a procedure or service was distinct or independent from other non-e/m services performed on the same day. modifier 59 is used to identify procedures/services, other than e/m services, that are not normally reported together, but are appropriate under the circumstances. documentation must support a different session, different procedure or surgery, different site or organ system, separate incision/excision, separate lesion, or separate injury (or area of injury in extensive injuries) not ordinarily encountered or performed on the same day by the same individual. however, when another already established modifier is appropriate it should be used rather than modifier 59. only if no more descriptive modifier is available, and the use of modifier 59 best explains the circumstances, should modifier 59 be used. note: modifier 59 should not be appended to an e/m service. to report a separate and distinct e/m service with a non-e/m service performed on the same date, see modifier 25.
GA Waiver of liability statement issued as required by payer policy, individual case
GV Attending physician not employed or paid under arrangement by the patient's hospice provider
GY Item or service statutorily excluded, does not meet the definition of any medicare benefit or, for non-medicare insurers, is not a contract benefit
QW Clia waived test
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2012-01-01 Added Added
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