Cystic Fibrosis (CFTR) Sequencing and Deletion/Duplication
Also known as: CFTR NGS
Use
This test is used for individuals with symptoms of cystic fibrosis (CF) or a CFTR-related disorder. CF is caused by biallelic pathogenic variants in the CFTR gene, and symptoms include chronic sinopulmonary disease, pancreatic insufficiency, hepatic disease, and various other symptoms. The test helps in diagnosing such disorders by detecting pathogenic variants, thereby providing crucial information for prognosis and potential therapeutic approaches.
Special Instructions
The test is not indicated for routine carrier screening and is primarily intended for individuals showing symptoms or having a familial history of cystic fibrosis. Genetic counseling and informed consent are suggested prerequisites for conducting this genetic test. Special provisions apply for specimens from New York clients, which are sent to a New York state-approved laboratory.
Limitations
The test detects variants within coding regions and intron-exon boundaries of the CFTR gene and may not detect non-coding, deep intronic variants, or regulatory region variants. Single exon deletions are detected with lower sensitivity, and not all deletions/duplications/insertions are guaranteed to be identified by massively parallel sequencing. The test does not detect low-level mosaicism, somatic variants, complex rearrangements, or mitochondrial mutations.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |