Ion AmpliSeq™ Ophthalmic Research Panel  Hide Panel Description

It can be difficult to identify specific genetic causes of vision impairment because of pleiotropy, locus heterogeneity and accessibility of gene tests. The panel was developed as a quick, accurate and cost-effective method to identify genetic mutations associated with inherited blindness or other impairments of vision. The panel assesses 316 genes known to harbor mutations causal of vision impairment. In addition to targeting all coding regions, an additional 50 non-coding disease-causing loci are targeted, as well as special coverage of two repeat expansion regions, in genes CNBP and ATXN7.

Design Date December 2013 Avg Amplicon Length 253 bp Insert Size 205 bp
Recommended Application Germ line mutation detection Recommended Configuration Sample per Chip: 2 per 318 chip
Average coverage: 406x
Sample Type Standard
Design Statistics Number of genes in panel: 316
Average gene coverage: 99.4%
Non-coding hotspots: 50
Observed Performance Uniformity of coverage: 97.6%
% reads on target: 98%
Positive predictive value: 99.0%
Input DNA required 10ng per tube
2 pool
20 ng total
Disease Research Area: Vision Disorders
  • Chip Calculator
  • 2 (20 ng)
  • Pools (Input DNA) Multiple Pools
  • Pool1: 3619 amplicons | Pool2: 3604 amplicons
  • 820.55 kb
  • Panel Size