Cystic Fibrosis Rare Variant Analysis, One Exon
Also known as: CF, Single Mutation, CF, Familial Mutation, CF
Use
Cystic fibrosis (CF) is the most common recessive lethal genetic disorder, particularly affecting Caucasians of Northern European descent, with an incidence of approximately 1 in 3,300 births and a carrier rate of 1 in 29. Detection of a variant in one exon is useful in patients with a known familial variant that is not included in the general cystic fibrosis mutation panel. ([jdos.nicholsinstitute.com](https://jdos.nicholsinstitute.com/dos/questdemo/test/872397?utm_source=openai))
Special Instructions
Not provided.
Limitations
Not provided.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 21656-4
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
3 mL
Container
EDTA (lavender‑top) tube; EDTA (royal blue‑top) tube; ACD (yellow‑top) tube; sodium heparin (green‑top) tube
Storage Instructions
Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Whole blood: 14 days; Bone marrow: 8 days; Fetal specimens: 48 hours |
| Refrigerated | Whole blood: 14 days; Bone marrow: 8 days; Fetal specimens: Unacceptable |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant