CPT® Code 81221

Official Description

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

Common Language Description

The CPT® Code 81221 pertains to the molecular genetic testing of the CFTR (cystic fibrosis transmembrane conductance regulator) gene, specifically focusing on known familial variants. This gene, located on chromosome 7, is crucial for encoding the CFTR protein, which 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 the hallmark symptoms of cystic fibrosis, a common autosomal recessive disorder, 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, depending on the specific mutations present. Those who inherit a mutation from only one parent are considered carriers and typically do not show symptoms. The severity of cystic fibrosis can be influenced by whether the mutations are heterozygous (different mutations on each gene) or homozygous (the same mutation on both genes). For instance, the homozygous pairing of the del508F mutation is associated with more severe disease manifestations. Cystic fibrosis significantly impacts pulmonary function, with respiratory infections being a leading cause of morbidity and mortality, often resulting in respiratory failure. Additionally, pancreatic insufficiency occurs in approximately 85% of cases, and other complications may include sinusitis, nasal polyps, liver disease, and pancreatitis. The life expectancy for individuals with cystic fibrosis, even those with milder forms, averages around 30 years. The testing associated with CPT® Code 81221 is particularly valuable for families with a known history of CFTR mutations, as it allows for the identification of specific mutations in family members, aiding in the understanding of disease severity and carrier status.

1. Indications

The molecular genetic testing associated with CPT® Code 81221 is indicated for individuals with a known family history of cystic fibrosis or CFTR gene mutations. This testing is essential for:

Family Screening: Identifying carriers and affected individuals within families where cystic fibrosis has been diagnosed.
Mutation Confirmation: Confirming specific known familial variants of the CFTR gene to assess the risk of disease manifestation in relatives.
Genetic Counseling: Providing information for genetic counseling to families regarding the inheritance patterns and implications of CFTR mutations.

2. Procedure

The procedure for CPT® Code 81221 involves several key steps to ensure accurate identification of known familial variants of the CFTR gene:

Sample Collection: A biological sample, typically blood or saliva, is collected from the individual undergoing testing. This sample contains DNA, which is necessary for genetic analysis.
DNA Extraction: The DNA is extracted from the collected sample using standard laboratory techniques to isolate the genetic material for analysis.
Genetic Analysis: The extracted DNA is subjected to molecular genetic testing specifically designed to detect known familial variants of the CFTR gene. This may involve techniques such as polymerase chain reaction (PCR) and sequencing to identify specific mutations.
Data Interpretation: The results of the genetic analysis are interpreted by qualified laboratory personnel, who will compare the findings against known CFTR mutations associated with cystic fibrosis.
Reporting Results: A comprehensive report is generated, detailing the identified mutations, their implications for the individual and family members, and recommendations for further testing or counseling if necessary.

3. Post-Procedure

After the procedure associated with CPT® Code 81221, individuals may receive genetic counseling based on the results of the testing. This counseling is crucial for understanding the implications of being a carrier or affected by cystic fibrosis. If a mutation is identified, family members may also be encouraged to undergo testing to determine their carrier status. Additionally, healthcare providers may discuss potential health management strategies and monitoring for individuals diagnosed with cystic fibrosis, as well as the importance of regular follow-up care to address any complications that may arise from the disease.

Short Descr	CFTR GENE KNOWN FAM VARIANTS
Medium Descr	CFTR GENE ANALYSIS KNOWN FAMILIAL VARIANTS
Long Descr	CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; known familial variants
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.