Product Description
The CleanPlex® Skeletal Ciliopathies Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing (NGS) assay designed to examine the germline variants or mutations across 30 genes associated with Skeletal Ciliopathies. The panel targets all the exonic regions of those genes and the flanking intronic sequences. Compatible with just 10 ng of DNA, sequencing-ready libraries can be prepared using a streamlined workflow in just 3 hours. The pre-designed panel is optimized in silico to deliver data with high on-target performance and high coverage uniformity to ensure efficient use of sequencing reads.
This product is made to order. Once we receive your order, we will synthesize the panel and the kit will contain CleanPlex Multiplex PCR Primers and CleanPlex Targeted Library Kit. CleanPlex Indexed PCR Primers and CleanMag® Magnetic Beads can be ordered separately to complete the workflow from input DNA to sequencing-ready NGS libraries.
Storage Temperature
Store at -20 °C.
For Research Use Only. Not for use in diagnostic procedures.
Gene List:
C21ORF2, C2CD3, CEP120, COMP, CSPP1, DYNC2H1, DYNC2LI1, EVC, EVC2, FGFR1, FGFR2, FGFR3, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, KIAA0586, KIAA0753, NEK1, TCTEX1D2, TCTN3, TTC21B, WDR19, WDR34, WDR35, WDR60
References:
Oud MM, et al. Ciliopathies: Genetics in Pediatric Medicine. J Pediatr Genet. 2017;6(1):18–29.
Schmidts M, et al. Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease. Human Mutation: Variation, Informatics, and Disease. 2013;34(5):714-724.