Test Name
Cystic Fibrosis MiSeqDx 139 Variant Assay
Test Code
M CF NGS 139
Associations
Cystic Fibrosis Diagnostic
CPT Codes
81220, 81221, 81222, 81224
Turnaround Time
7-10 days
Specimen Requirements
5.0mL (min 3.0mL) whole blood EDTA preserved
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; Clotted; Severely hemolyzed whole blood specimen; incorrect anticoagulant; frozen sample
Description
CF diagnosis and carrier status
References
- Watson MS, Cutting GR, Desnick RJ, Driscoll DA, Klinger K, et al. (2004). Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genetics in Medicine 6: 387-391.
- Committee on Genetics. (2011). The American College of Obstetricians and Gynecologists Committee Opinion. Update on Carrier Screening for Cystic Fibrosis 486: 1-4.
- Illumina. (2014). MiSeqDx® Cystic Fibrosis 139-Variant Assay Package Insert 15038347 A.
