Ion AmpliSeq™ Inborn Errors of Metabolism Research Panel v2  Hide Panel Description


Research to identify specific genetic causes of metabolic disorders is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Inborn Errors of Metabolism Research Panel v2 was designed based on extensive curation of peer-reviewed literature, disease research databases and consultation with key opinion leaders.

Number of amplicons 9,681 Avg Amplicon Length 254 bp Insert Size 207 bp
Recommended Application Germ line mutation detection Compatible platforms Ion S5™ System, Ion PGM™ System, Ion Proton™ System Sample Type Standard
Design Statistics Number of genes in panel: 594
Average gene coverage: 99.2%
Observed Performance Uniformity of amplicon coverage: 95.8%
% reads on target: 97%
Input DNA required 10 ng per pool
20 ng total
2 pools
Disease Research Area: Inherited Metabolic Disorders
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  • 2 (20 ng)
  • Pools (Input DNA) Multiple Pools
  • Pool1: 4855 amplicons | Pool2: 4826 amplicons
  • 1.05 Mb
  • Panel Size