Cystic Fibrosis (CFTR) Expanded Variant Panel with Reflex to Sequencing and Reflex to Deletion/Duplication
Ordering Recommendation
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).
Mnemonic
Methodology
Polymerase Chain Reaction/ Fluorescence Monitoring/Sequencing/Multiplex Ligation-dependent Probe Amplification
Performed
Sun-Sat
Reported
7-35 days
New York DOH Approval Status
Specimen Required
Lavender (K2EDTA), pink (K2EDTA).
Transport 5 mL whole blood. (Min: 3 mL)
Refrigerated.
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
Reference Interval
By report
Interpretive Data
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)
Note
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.
Hotline History
Hotline History
CPT Codes
81220; if reflexed to Sequencing, add 81223; if reflexed to Del/Dup, add 81222
Components
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 |
Aliases
- CF
- CFTR
- CFTR-RD
- CFTR-related disorder
- CFTR-related metabolic syndrome
- CRMS