Ion AmpliSeq™ Dementia Research Gene Panel  Hide Panel Description


Research to identify a specific genetic cause of early onset dementia (EOD) is important but can be difficult 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 in EOD. The panel assesses 17 genes known to harbour mutations causal of dementia (PRNP, PSEN1, PSEN2, APP, GRN, MAPT, TREM2, CHMP2B, CSF1R, FUS, ITM2B, NOTCH3, SERPINI1, TARDBP, TYROBP, VCP, SQSTM1) which we routinely combine with PCR based assessments of the C9orf72 hexanucleotide repeat expansion and the octapeptide repeat region of PRNP. In a blinded study of 95 archived samples we showed that very high sensitivity and specificity are achievable. For further details see Beck et al, NeuroBiology of Aging 2013.

Design Date May 2012 Publication:Beck et al, NeuroBiology of Aging 2013
Corresponding Author: Simon Mead (s.mead@prion.ucl.ac.uk)
Institution:Medical Research Council (UK)
Number of samples in Publication 95 Observed Performance Panel uniformity: 95%
Reads on-targets: 87%
Recommended Configuration Sample per Chip: 32 per 318 chip
Minimum coverage: 1000x
Recommended Application Germline mutation detection Sample Type High molecular weight DNA Input DNA required 10ng per tube
Disease Research Area: Dementia Research
  • Chip Calculator
  • 2 (20 ng)
  • Pools (Input DNA) Multiple Pools
  • Pool1: 109 amplicons | Pool2: 105 amplicons
  • 21.7 kb
  • Panel Size