Cystic Fibrosis (CFTR) Expanded Variant Panel with Reflex to Sequencing and Reflex to Deletion/Duplication
For use in individuals with suspected cystic fibrosis (CF). This test is NOT indicated for routine carrier screening. If individual is not symptomatic, order Cystic Fibrosis (CFTR) Expanded Variant Panel (2013661).
Polymerase Chain Reaction/ Fluorescence Monitoring/Sequencing/Multiplex Ligation-dependent Probe Amplification
New York DOH Approval Status
Lavender (K2EDTA), pink (K2EDTA).
Transport 5 mL whole blood. (Min: 3 mL)
Plasma or serum. Specimens collected in sodium heparin, yellow (ACD solution A or B), 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)
If less than two pathogenic variants are identified by the Cystic Fibrosis (CFTR) Expanded Variant Panel, then CFTR gene sequencing will be performed. Following sequencing, if less than two pathogenic variants are identified, then CFTR deletion/duplication analysis will be performed. Additional charges will apply for each tier performed.
81220; if reflexed to Sequencing, add 81223; if reflexed to Del/Dup, add 81222
|Component Test Code*||Component Chart Name||LOINC|
|2013675||Cystic Fibrosis, Allele 1||42938-1|
|2013676||Cystic Fibrosis, Allele 2||42939-9|
|2013682||CF 165 Var. w/Rflx to Seq/DD, Interp|
|2013692||Cystic Fibrosis 5T Variant||21654-9|
- CFTR-related disorder
- CFTR-related metabolic syndrome