Cystic Fibrosis (CF), 97 Variants, Fetal Analysis
Also known as: CF testing
Use
This test is used for prenatal diagnosis for pregnancies at risk for cystic fibrosis. Ninety-seven CFTR variants are included in this analysis.
Special Instructions
Not provided.
Limitations
This test's methodologies do not detect germline mosaicism, large chromosomal aberrations, rearrangements, gene fusions, or variants in regions not covered by this test. It also does not evaluate potential interactions between variants or identify repeat expansions. Variant classification and interpretation are subject to change as new information becomes available. False positive or false negative results might occur due to rare genetic variants, sex chromosome abnormalities, pseudogene interference, blood transfusions, bone marrow transplantation, somatic or tissue-specific mosaicism, sample mislabeling, or inaccurate family relationship representation. This test, developed and characterized by Labcorp, is not FDA cleared or approved.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
8-14 days
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
10 mL
Minimum Volume
10 mL
Container
sterile plastic conical tube
Collection Instructions
Standard sterile techniques; transfer aseptically to sterile tubes. Discard first 2 mL of fluid aspirated to avoid maternal cell contamination.
Storage Instructions
Maintain specimen at room temperature. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container.
Other tests from different labs that may be relevant