CPT® Code 81222

Official Description

CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion variants

Common Language Description

The CPT® Code 81222 pertains to the molecular genetic testing of the CFTR (cystic fibrosis transmembrane conductance regulator) gene, specifically focusing on the analysis of duplication and deletion 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 characteristic symptoms of cystic fibrosis (CF). 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 cystic fibrosis can be influenced by whether the mutations are heterozygous (one mutated gene) or homozygous (two mutated genes). For instance, the homozygous pairing of the del508F mutation is associated with more severe disease manifestations. The disease significantly impacts pulmonary function, with respiratory infections being a leading cause of morbidity and mortality, often culminating in respiratory failure. Additionally, pancreatic insufficiency occurs in approximately 85% of cases, leading to digestive complications. Other associated conditions 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 CPT® Code 81222 specifically addresses the identification of duplication and deletion variants of the CFTR gene, which are critical for understanding the genetic basis of cystic fibrosis. This analysis complements other genetic tests, such as those for common CFTR variants (CPT® Code 81220) and known familial variants (CPT® Code 81221), providing a comprehensive approach to genetic testing in individuals suspected of having cystic fibrosis or those with a family history of the disease.

1. Indications

The CPT® Code 81222 is indicated for use in the molecular genetic testing of individuals suspected of having cystic fibrosis or those with a family history of the disease. The following conditions and scenarios warrant the use of this specific gene analysis:

Diagnosis of Cystic Fibrosis: Individuals presenting with symptoms consistent with cystic fibrosis, such as chronic respiratory infections, pancreatic insufficiency, or gastrointestinal issues.
Carrier Testing: Individuals with a family history of cystic fibrosis who wish 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.
Assessment of Duplication/Deletion Variants: Patients who have undergone previous genetic testing that did not identify mutations may require further analysis to detect potential duplication or deletion variants of the CFTR gene.

2. Procedure

The procedure for CPT® Code 81222 involves several critical steps to accurately analyze the CFTR gene for duplication and deletion variants. The following procedural steps are outlined:

Sample Collection: A biological sample, typically blood or saliva, is collected from the patient. This sample contains the DNA necessary for genetic analysis.
DNA Extraction: The DNA is extracted from the collected sample using standard laboratory techniques to ensure that it is suitable for analysis.
Multiplex Ligation-Dependent Probe Amplification (MLPA): This technique is employed to detect duplication and deletion variants in the CFTR gene. MLPA allows for the amplification of specific regions of the gene, enabling the identification of copy number variations that may not be detected through standard sequencing methods.
Data Analysis: The results from the MLPA are analyzed to determine the presence of any duplication or deletion variants. This analysis is crucial for understanding the genetic basis of cystic fibrosis in the patient.
Reporting Results: The findings are compiled into a report that details the presence or absence of duplication and deletion variants in the CFTR gene, which is then communicated to the healthcare provider for further clinical decision-making.

3. Post-Procedure

After the completion of the genetic testing associated with CPT® Code 81222, several post-procedure considerations are important. Patients may receive counseling regarding the implications of the test results, especially if duplication or deletion variants are identified. This counseling can help in understanding the potential health impacts, the likelihood of developing cystic fibrosis, and the implications for family members. Additionally, healthcare providers may discuss further testing options or management strategies based on the results. Follow-up appointments may be necessary to address any questions or concerns and to plan for any required interventions or monitoring based on the patient's genetic profile.

Short Descr	CFTR GENE DUP/DELET VARIANTS
Medium Descr	CFTR GENE ANALYSIS DUPLICATION/DELETION VARIANTS
Long Descr	CFTR (cystic fibrosis transmembrane conductance regulator) (eg, cystic fibrosis) gene analysis; duplication/deletion 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.
XU	Unusual non-overlapping service, the use of a service that is distinct because it does not overlap usual components of the main service
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
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