Ion AmpliSeq™ Dysmorphia-Dysplasia Research Panel v2  Hide Panel Description

Research to identify specific genetic causes of dysmorphia-dysplasia is important but can be difficult because of pleiotropy, locus heterogeneity and accessibility of information. The Ion AmpliSeq™ Dysmorphia-Dysplasia 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 12,547 Avg Amplicon Length 253 bp Insert Size 206 bp
Recommended Application Germline mutation detection Compatible platforms Ion S5™ System, Ion PGM™ System, Ion Proton™ System Sample Type Standard
Design Statistics Number of genes in panel: 519
Average gene coverage: 98.8%
Observed Performance Uniformity of amplicon coverage: 95.9%
% reads on target: 96%
Input DNA required 10 ng per pool
20 ng total (2 pools)
Disease Research Area: Inherited Dysmorphia/Dysplasia
  • Chip Calculator
  • 2 (20 ng)
  • Pools (Input DNA) Multiple Pools
  • Pool1: 6288 amplicons | Pool2: 6270 amplicons
  • 1.48 Mb
  • Panel Size