Cystic Fibrosis (CFTR) Expanded Variant Panel
Also known as: CF VAR
Use
The Cystic Fibrosis (CFTR) Expanded Variant Panel is used for carrier screening for expectant individuals and those planning a pregnancy, as well as for diagnostic testing of individuals presenting with symptoms of classic cystic fibrosis (CF). This test is helpful in identifying individuals as carriers of CF or those who may be affected by a CFTR-related disorder.
Special Instructions
Informed consent for genetic testing is required for patients in New York. Additionally, a patient history form for cystic fibrosis testing must be submitted with the order. Ensure specimens are not collected in sodium heparin, yellow (ACD solution), or lithium heparin tubes, and avoid freezing specimens in glass collection tubes.
Limitations
Diagnostic errors can occur due to rare sequence variations. The test only interrogates the CFTR variants listed and the 5T variant. Variants not covered by this panel require sequencing and deletion/duplication testing to be detected. This test is not cleared or approved by the U.S. FDA.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
LOINC Codes
- 42938-1
- 42939-9
- 21656-4
- 21654-9
Result Turnaround Time
5-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA)
Storage Instructions
Refrigerated
Causes for Rejection
Specimens collected in sodium heparin, yellow (ACD solution), or lithium heparin tubes. Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | unacceptable |