Intended Use The Illumina MiSeqDx Cystic Fibrosis Clinical Sequencing Assay is a targeted sequencing in vitro diagnostic system that re-sequences the protein coding regions and intron/exon boundaries of the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene in genomic DNA isolated from human peripheral whole blood specimens collected in K2EDTA. The test detects single nucleotide variants, and small indels within the region sequenced, and additionally reports on two deep intronic mutations and two large deletions. This test is intended to be used on the Illumina MiSeqDx instrument.
This test is intended to be used as an aid in the diagnosis of individuals with suspected cystic fibrosis (CF). This assay is most appropriate when the patient has an atypical or non-classic presentation of CF or when other mutation panels have failed to identify both causative mutations. The results of this test are intended to be interpreted by a certified clinical molecular geneticist or equivalent and should be used in conjunction with other available information inducing clinical symptoms, other diagnostic tests, and family history.
This test is not indicated for use for stand-along diagnostic purposes, fetal diagnostic testing, for pre-implantation testing, carrier screening, newborn screening, or population screening.
This test is intended to be used on the Illumina MiSeqDx instrument.
Catalog IDs:
Library prep reagents for up to 48 samples
MiSeqDx sequencing reagents for 6 runs with a maximum of 8 samples per run
Additional parts: