The Illumina MiSeqDx Cystic Fibrosis 139-Variant Assay is a qualitative in vitro diagnostic system used to simultaneously detect 139 clinically relevant cystic fibrosis disease-causing mutations and variants of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in genomic DNA isolated from human peripheral whole blood samples. The variants include those recommended in 2004 by the American College of Medical Genetics (ACMG)3 and in 2011 by the American College of Obstetricians and Gynecologists (ACOG)4.
The test is intended for carrier screening in adults of reproductive age, in confirmatory diagnostic testing of newborns and children, and as an initial test to aid in the diagnosis of individuals with suspected cystic fibrosis. The results of this test are intended to be interpreted by a board-certified clinical molecular geneticist or equivalent and should be used in conjunction with other available laboratory and clinical information. This test is not indicated for use for newborn screening, fetal diagnostic testing, pre-implantation testing, or for stand-alone diagnostic purposes.
The test is intended to be used on the Illumina MiSeqDx instrument.
For In Vitro Diagnostic Use.
Contact an Illumina representative for regional availability.