Test Name
Cystic Fibrosis Luminex 39 Variant Assay
Test Code
M CF 39
Associations
Cystic fibrosis carrier and diagnostic
CPT Codes
81220
Turnaround Time
7-10 days
Specimen Requirements
5.0 mL (min. 3.0 mL) whole blood EDTA preferred, ACD accepted
Specimen Stability
Ambient (18-25°C): 72 hours; Refrigerated (2-8°C): 30 days; Frozen: Unacceptable
Storage & Handling
Ship blood specimen at ambient temperature. If shipment is delayed, store blood at 2–8°C and ship with a cool/refrigerated pack.(Do not allow the sample to be in direct contact with the cool pack.)
Causes for Rejections
Insufficient DNA material; Frozen; Clotted; Severely hemolyzed whole blood specimen; frozen sample
Description
The Luminex xTAG® Cystic Fibrosis (CFTR) 39 kit v2 (IVD) allows for the detection and simultaneous identification of a panel of 39 mutations and 4 variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The panel includes mutation
References
- Grody WW. (2009). Cystic fibrosis testing comes of age. J Mol Diagn. 11:173-175.
- American College of Medical Genetics (2006). Technical standards and guidelines for CFTR mutation testing.
- Committee on Genetics. (2011). The American College of Obstetricians and Gynecologists Committee Opinion. Update on Carrier Screening for Cystic Fibrosis 486: 1-4.
- Watson MS et al. (2004). Cystic fibrosis carrier screening: 2004 revision of the American College of Medical Genetics mutation panel. Genet Med. 6:387-391.
