Cystic Fibrosis (CF), 97 Variants
Also known as: CF testing
Use
This test is used for cystic fibrosis carrier screening for 97 CFTR variants.
Special Instructions
To test fetal specimens, including cord blood, order Cystic Fibrosis (CF), 97 variants, Fetal Analysis [481573].
Limitations
Technologies used do not detect germline mosaicism or rule out the presence of large chromosomal aberrations including rearrangements and gene fusions, or variants in regions or genes not included in this test, or possible inter/intragenic interactions between variants, or repeat expansions. Variant classification and/or interpretation may change with time if more information becomes available. False positive or false negative results may occur due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, mislabeled samples, or erroneous representation of family relationships. This test has not been cleared or approved by the FDA.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
8-14 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
3 mL
Container
Yellow-top (ACD-A), lavender-top (EDTA), pink-top (EDTA) or tan-top (EDTA) tubes
Collection Instructions
Standard phlebotomy.
Patient Preparation
Do not eat, drink, smoke or chew gum 30 minutes prior to collection.
Storage Instructions
Maintain specimen at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days at 4°C |
Other tests from different labs that may be relevant