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
New York DOH Approval Status
Lavender (EDTA), pink (K2EDTA).
Transport 3 mL whole blood. (Min: 1 mL)
Plasma or serum. Specimens collected in sodium heparin, yellow (ACD solution), or lithium heparin tubes. Frozen specimens in glass collection tubes.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Refer to report.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
The Cystic Fibrosis (CFTR) Expanded Variant Panel includes the 23 pathogenic CF variants recommended by the American College of Medical Genetics for carrier screening as well as many more.
|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||21656-4|
|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