Cystic Fibrosis Pathogenic Variant Analysis.
- 81220 - QTY (1)
Cleveland Clinic Laboratories
|Volume||Type||Container||Collect Temperature||Transport Temperature||Special Instructions|
|4 mL||Whole blood||EDTA (Lavender)||Ambient||Ambient||Blood specimens are transported and stored at room temperature no longer than 48 hours|
|Ambient||Blood may be transported ambient temperature within 48 hours.|
|Refrigerated||Blood may be transported ambient temperature within 48 hours. After 48 hours blood must be stored at 2-8 degree C for up to 7 days.|
|Frozen||Frozen samples will be rejected.|
1 day per week
|Polymerase Chain Reaction (PCR)|
|Single Nucleotide Extension (SNE)|
|Matrix-assisted Laser Desorption Ionization Time-of-Flight (MALDI-TOF) Mass Spectrometry|
This test may not be appropriate for follow-up testing of the partners of known carriers. Genetics consultation may be of benefit in determining the appropriate testing strategy in these circumstances.
The test is intended for cystic fibrosis carrier screening in adults of reproductive age, in confirmatory diagnostic testing, and as an initial test to aid in the diagnosis of individuals with suspected cystic fibrosis. This test is not indicated for use for newborn screening, fetal diagnostic testing, pre-implantation testing, or for standalone diagnostic purposes. The test includes 139 pathogenic variants, including the 23 ACMG/ACOG recommended common CFTR variants. The increased number of variants improves the detection rate across a wider spectrum of patient ethnicities.
The test does not include all known pathogenic variants of CFTR. A negative result reduces but does not eliminate the risk of carrier status or cystic fibrosis. Residual risk after a negative test varies with ethnicity, which influences both the carrier rate and the test's detection rate.