Cystic Fibrosis (CFTR) Expanded Variant Panel, Fetal
Also known as: CF VAR FE
Use
This test is used for individuals with suspected cystic fibrosis (CF), but it is not indicated for routine carrier screening. It helps identify potential pathogenic CFTR variants associated with cystic fibrosis in a fetal sample, using a panel that tests for 165 CF variants. It provides a post-test risk assessment for CF in the fetus if echogenic bowel or other symptoms are present, and includes a maternal contamination study to ensure sample integrity.
Special Instructions
Not provided.
Limitations
Diagnostic errors can occur due to rare sequence variations. This test interrogates only the CFTR variants listed and the 5T variant. It does not clear or approve by the U.S. Food and Drug Administration but is performed in a CLIA-certified lab.
New York Approved
Methodology
Mass Spectrometry
Biomarkers
CFTR
Gene
LOINC Codes
- 59266-7 - Maternal Cell Contam Spec
- 66746-9 - Specimen type
- 42938-1 - CFTR allele 1 Bld/T Ql
- 42939-9 - CFTR allele 2 Bld/T Ql
- 38404-0 - CFTR Mut Anl Bld/T
- 21654-9 - CFTR Mut Anl Bld/T
Result Turnaround Time
7-10 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
10 mL
Minimum Volume
5 mL
Container
sterile container
Causes for Rejection
Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | 48 hours |
| Frozen | Unacceptable |
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