CFvantage Cystic Fibrosis Expanded Screen
Also known as: CF Expanded Mutation Carrier Screen, CFTR Expanded Mutation Screen, Cystic Fibrosis Expanded Panel, CF155 Mutations, CF Carrier Screen
Use
This test serves as an expanded carrier screen for cystic fibrosis by analyzing disease‑causing pathogenic variants in the CFTR gene. It includes the 23 core variants recommended by ACMG/ACOG along with additional rare mutations associated with CF, aiding in identification of carrier status and assessment of reproductive risk. Residual risk data is provided based on ethnicity when results are negative.
Special Instructions
Not provided.
Limitations
Rare false positive or false negative results may occur; results should be interpreted in context of clinical findings, history, and other laboratory data. The intron 9 polyT status is only reported when R117H is detected.
Methodology
NGS (Targeted)
Biomarkers
CFTR
Gene
LOINC Codes
- 21565-4
- 21654-9 - CFTR Mut Anl Bld/T
- 32624-9 - Race
- 38404-0 - CFTR Mut Anl Bld/T
- 8266-9 - Service Cmnt 05-Imp
Result Turnaround Time
7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3‑5 mL
Minimum Volume
3 mL
Container
EDTA (lavender‑top) tube; yellow‑top (ACD) or green‑top (heparin) acceptable
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 Days |
| Refrigerated | 8 Days |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant