M CF NGS 139
Cystic Fibrosis Diagnostic
Next Generation Sequencing
5.0mL (min 3.0mL) whole blood EDTA preserved
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.)
Insufficient DNA material; Clotted; Severely hemolyzed whole blood specimen; incorrect anticoagulant; frozen sample
The illumina MiSeqDx CF 139-Variant assay by NGS detects 135 clinically relevant cystic fibrosis disease-causing mutations and 4 variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The panel includes mutations and variants currently recommended by the American College of Medical Genetics and American College of Obstetricians and Gynecologists (ACMG/ACOG). CF 139 by NGS is designed to capture the clinically validated CF causing mutations in the CFTR2 database, this pan ethnic expanded panel can be useful for increasing clinical sensitivity in more ethnically diverse populations or in clinical situations where CFTR molecular screening fails to identify a second pathogenic mutation in patients with a clinical diagnosis of CF.
Recommended for diagnostic testing for individuals with suspected or known CF
Population-based CF carrier screening for:
• Individuals with a family history of CF
• Reproductive partners of individuals with CF
• Couples who are planning a pregnancy or seeking prenatal care
MiSeqDX and Illumina are registered trademarks of Illumina, Inc.