Ion AmpliSeq™ Cardiovascular Research Panel  Hide Panel Description

It can be difficult to identify specific genetic causes of cardiovascular diseases 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 cardiovascular defects. The panel assesses 404 genes known to harbor mutations affecting cardiovascular functioning. In addition to targeting all coding regions, an additional 94 non-coding disease-causing loci are targeted, as well as special coverage of two repeat expansion regions, in genes DMPK and CACNA1A.

Design Date December 2013 Avg Amplicon Length 254 bp Insert Size 206 bp
Recommended Application Germ line mutation detection Recommended Configuration Sample per Chip: 2 per 318 chip
Average coverage: 314x
Sample Type Standard
Design Statistics Number of genes in panel: 404
Average gene coverage: 99.4%
Non-coding hotspots: 94
Observed Performance Uniformity of coverage: 90.1%
% reads on target: 97%
Positive predictive value: 99.5%
Input DNA required 10ng per tube
2 pool
20 ng total
Disease Research Area: Cardiovascular Disease
  • Chip Calculator
  • 2 (20 ng)
  • Pools (Input DNA) Multiple Pools
  • Pool1: 5222 amplicons | Pool2: 5208 amplicons
  • 1.19 Mb
  • Panel Size