Product Description
The CleanPlex® Congenital Cataracts 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 77 genes associated with Congenital Cataracts. 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:
ADAMTSL4, AGK, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, EPHA2, EYA1, FAM126A, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GCNT2, GFER, GJA1, GJA3, GJA8, HSF4, JAM3, LEMD2, LIM2, LSS, MAF, MIP, MIR184, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PITX2, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, SIL1, SIPA1L3, SIX6, SLC16A12, SLC33A1, TBC1D20, TDRD7, TFAP2A, TMEM70, UNC45B, VIM, VSX2, WFS1, WRN
References:
Shielsa A. and Hejtmancikb JF. Genetics of human cataract. Clin Genet. 2013 Aug; 84(2): 120–127.
Robinson et al. Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A. 2008 Mar 1;146A(5):558-69.
Reis L.M. et al. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013 Jul;132(7):761-70.
Krug et al. Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring Branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Hum Mutat. 2011;32:183–90.
Chen J. et al. Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet. 2011 Jun 10;88(6):827-838.
Kalaydjieva et al. Congenital Cataracts, Facial Dysmorphism, and Neuropathy. Gene Reviews. Pagon RA, Adam MP, Ardinger HH, et al., editors. Seattle (WA): University of Washington, Seattle; 1993-2017.