Carrier screening for expectant individuals and those planning a pregnancy AND diagnostic testing for individuals with symptoms of classic CF.
Polymerase Chain Reaction/Fluorescence Monitoring
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution).
Transport 3 mL whole blood. (Min: 1 mL)
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month
Background information for Cystic Fibrosis (CFTR), 165 Pathogenic Variants:
Characteristics of Classic Cystic Fibrosis (CF): Chronic sino-pulmonary disease, gastrointestinal malabsorption/pancreatic insufficiency, and obstructive azoospermia. Symptoms of a CFTR-related disorder are often limited to a single organ system such as isolated pancreatitis, bilateral absence of the vas deferens, nasal polyposis, or bronchiectasis.
Incidence: 1 in 2,300 Ashkenazi Jewish, 1 in 2,500 Caucasians, 1 in 13,500 Hispanics, 1 in 15,100 African Americans, 1 in 35,100 Asians.
Inheritance: Autosomal recessive.
Penetrance: High for severe pathogenic variants, variable for moderate and mild pathogenic variants.
Cause of Classic CF: Two severe, or one severe and one moderate, pathogenic CFTR variants on opposite chromosomes.
Cause of CFTR-Related Disorders: Two pathogenic CFTR variants on opposite chromosomes in any of the following combinations: two mild, one mild and one severe or one mild and one moderate.
Pathogenic Variants Tested: See the "Additional Technical Information" document.
Clinical Sensitivity: Ashkenazi Jewish 96 percent; Caucasian 92 percent; Hispanic 80 percent; African American 78 percent; Asian American 55 percent.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity & Specificity: 99 percent.
Limitations: Diagnostic errors can occur due to rare sequence variations. Only the 165 pathogenic CFTR variants and 5T variant will be interrogated.
Laboratory Developed Test (LDT)
The CF 165-Variants assay includes the 23 pathogenic CF variants recommended by the American College of Medical Genetics for population carrier screening.
|Component Test Code*||Component Chart Name||LOINC|
|2013675||Cystic Fibrosis, Allele 1||42938-1|
|2013676||Cystic Fibrosis, Allele 2||42939-9|
|2013677||Cystic Fibrosis, 165 Variants, Interp|
|2013692||Cystic Fibrosis 5T Variant||21654-9|
- CF DNA Analysis
- CF Gene Mutation Panel
- CF Molecular Genetic Testing
- CF population carrier screening test
- Classic CF
- Cystic Fibrosis Genotyping