CPT® Code 81220

Official Description

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines)

Common Language Description

The CPT® Code 81220 pertains to the molecular genetic testing of the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which is crucial for diagnosing cystic fibrosis. This gene is located on chromosome 7 and encodes a protein that functions as a chloride channel in epithelial cells. These cells are found in various organs, including the lungs, liver, pancreas, digestive tract, reproductive organs, and sweat glands. Mutations in the CFTR gene disrupt the normal movement of salt and water across cell membranes, leading to the production of thick, sticky mucus. This mucus can obstruct airways and glands, resulting in severe respiratory and digestive issues characteristic of cystic fibrosis. Cystic fibrosis is one of the most prevalent autosomal recessive disorders, particularly among Caucasians and Ashkenazi Jewish populations. Individuals who inherit a mutated CFTR gene from both parents may exhibit a range of symptoms, from mild to severe, while those inheriting a mutation from only one parent become carriers without showing symptoms. The severity of the disease can be influenced by whether the mutations are heterozygous (different mutations from each parent) or homozygous (the same mutation from both parents). The most common mutation, del508F, accounts for approximately 70% of CFTR mutations across populations and involves a deletion of three nucleotides, resulting in the loss of the amino acid phenylalanine at position 508 of the protein. Other notable mutations vary by population, with specific variants identified in Non-Hispanic Caucasians, Ashkenazi Jews, African Americans, and Hispanics. The implications of these mutations are significant, as they can lead to various complications, including severe pulmonary disease, pancreatic insufficiency, sinusitis, liver disease, and pancreatitis. The prognosis for individuals with cystic fibrosis is heavily influenced by respiratory health, with many facing respiratory failure due to recurrent infections. The life expectancy for individuals with even mild forms of the disease averages around 30 years. The gene analysis performed under CPT® Code 81220 focuses on identifying these common variants to aid in the diagnosis and management of cystic fibrosis.

1. Indications

The molecular genetic testing for the CFTR gene analysis, as described by CPT® Code 81220, is indicated for the following conditions:

Cystic Fibrosis Diagnosis: Testing is performed to confirm a diagnosis of cystic fibrosis in individuals presenting with symptoms consistent with the disease.
Carrier Screening: Individuals with a family history of cystic fibrosis or those belonging to populations with a higher prevalence of CFTR mutations may undergo testing to determine if they are carriers of the disease.
Newborn Screening Follow-Up: Infants who have tested positive for cystic fibrosis on newborn screening may require further genetic testing to identify specific CFTR mutations.
Family Planning: Couples planning to have children may seek testing to assess the risk of passing on cystic fibrosis to their offspring, especially if there is a known family history of the disease.

2. Procedure

The procedure for CPT® Code 81220 involves several key steps to ensure accurate identification of CFTR gene mutations:

Sample Collection: A biological sample, typically blood or saliva, is collected from the individual undergoing testing. This sample contains the DNA necessary for analysis.
DNA Extraction: The DNA is extracted from the collected sample using standardized laboratory techniques to isolate the genetic material for further analysis.
Mutation Analysis: The extracted DNA is subjected to molecular genetic testing specifically designed to identify common variants of the CFTR gene. This includes the most prevalent mutation, del508F, as well as other known variants associated with cystic fibrosis.
Data Interpretation: The results of the genetic analysis are interpreted by qualified laboratory personnel, who assess the presence of specific mutations and their implications for the individual’s health.
Reporting Results: A comprehensive report is generated, detailing the findings of the genetic analysis, including any identified mutations and their potential impact on the diagnosis and management of cystic fibrosis.

3. Post-Procedure

After the completion of the CFTR gene analysis under CPT® Code 81220, several post-procedure considerations are important:

Patients may receive genetic counseling to understand the implications of their test results, especially if mutations are identified. This counseling can help individuals and families make informed decisions regarding treatment options, family planning, and management of cystic fibrosis. Additionally, follow-up testing may be recommended for family members to determine carrier status or to identify specific mutations in relatives. It is also essential for healthcare providers to discuss the potential need for ongoing monitoring and management of any symptoms associated with cystic fibrosis, as early intervention can significantly improve quality of life and health outcomes.

Short Descr	CFTR GENE COM VARIANTS
Medium Descr	CFTR GENE ANALYSIS COMMON VARIANTS
Long Descr	CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; common variants (eg, ACMG/ACOG guidelines)
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.
GA	Waiver of liability statement issued as required by payer policy, individual case
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.
GW	Service not related to the hospice patient's terminal condition
GZ	Item or service expected to be denied as not reasonable and necessary