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Cystic fibrosis (CF) is the most common fatal hereditary lung disease, which affects ~70,000 individuals worldwide1,2. In addition to the most common F508 deletion, clinical research has identified over 1900 separate mutations spanning the intronic and promoter regions bordering the CFTR gene have known or suspected molecular consequences ranging from defective channel synthesis, altered ion gating and conductance, or reduced protein expression1,2. Most allelic variants encode premature termination codons (PTCs), variants in the canonical nucleotides of the splice donor or splice acceptor sites (i.e. GT-AG) or insertion-deletion frameshift variants resulting in loss-of-function phenotype as well as splice variants which cause reduced levels of mRNA and mature protein across the epithelial membranes of target organs3. Additionally, most males with pathological mutations in both alleles are completely sterile4.
NEXTFLEX® Cystic Fibrosis AmpliconPanelNEWBORN SYNDROMES & INFERTILITY
Gene Content CFTR exons and 3 deep intron and promoter variation regions
Low Sample Requirement As low as 2.5 ng total DNA from fresh or frozen samples
Coverage Uniformity 100% at 0.1x mean coverage
On-target Reads > 96%
High Sample IndexingUp to 384 samples with 100x coverage on a single Illumina® 2x 150 MiSeq® lane for germline mutations
Efficient Workflow < 3 hrs hands-on time
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Amplicons arranged by their chromosomal position
Figure 1. Performance of NEXTFLEX® Cystic Fibrosis Amplicon Panel Library. (Left) Gel image of amplicon products. (Right) Uniformity coverage across 61 amplicons.
Ordering Information
The NEXTflex® Cystic Fibrosis Amplicon Panel, along with our other Panel offerings, is a powerful tool enabling the accurate detection and differentiation of mutations for clinical research in a rapid and high-throughput manner using NGS.
References1. Mall, M. A. and Hartl, D. 2014. CFTR: cystic fibrosis and beyond. Eur. Respir. J. 44(4):1042-1054.2. Cutting, G. R. 2015. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat. Rev. Genet. 16(1):45-56.3. Sosnay, P. R. et al. 2013. Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene. Nat Genet.,
45(10):1160-1167.4. Cuppens, H. et al. 2004. CFTR mutations and polymorphisms in male infertility. Int. J. Androl. 27(5):251-6.
CATALOG # PRODUCT NAME QUANTITY
NOVA-4231-01 NEXTFLEX® Cystic Fibrosis Amplicon Panel for Illumina® Platforms (8 Barcodes) 8 rxns
NOVA-4231-02 NEXTFLEX® Cystic Fibrosis Amplicon Panel for Illumina® Platforms (48 Barcodes) 48 rxns
NOVA-4231-03 NEXTFLEX® Cystic Fibrosis Amplicon Panel for Illumina® Platforms (Barcodes 1-96) 96 rxns
NOVA-4231-04 NEXTFLEX® Cystic Fibrosis Amplicon Panel for Illumina® Platforms (Barcodes 97-192) 96 rxns
NOVA-4231-05 NEXTFLEX® Cystic Fibrosis Amplicon Panel for Illumina® Platforms (Barcodes 193-288) 96 rxns
NOVA-4231-06 NEXTFLEX® Cystic Fibrosis Amplicon Panel for Illumina® Platforms (Barcodes 289-384) 96 rxns
1
2
8
32
128
512
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chr7 CFTR (61 amplicons)
20% Uniformity Threshold
*Reagents easily compatible with Thermo Fisher® Ion Torrent™ platforms. Please inquire for details.For research use only. Not for use in diagnostic procedures.
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