Ion AmpliSeq™ Noonan Research Panel  Hide Panel Description


Noonan syndrome is a relatively common autosomal dominant congenital disorder with a high phenotypic variability. It is a clinically and genetically heterogeneous disorder that belongs to the group of Rasopathy diseases, caused by mutations in genes dysregulating the RAS/MAPK pathway. The Noonan Research Gene Panel has been developed in collaboration with an European consortia composed by Marco Tartaglia(1), Jose Luis Costa (2), Kornelia Neveling and Marcel Nelen (3) . 1) Istituto Superiore di Sanità, Rome, Italy, 2) Ipatimup, Porto 3) Human Genetics, Radboud UMC Nijmegen . The panel assesses 14 genes known to be related with this disorder. A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1. In a first study of 60 archived samples we showed that very high sensitivity and specificity are achievable. For further details see ASHG 2014 poster “Development and verification of a Noonan genes Ion AmpliSeq™ panel” M. Nelen et al.

Design Date Publication: ASHG 2014 Poster "Development and verification of a Noonan genes Ion AmpliSeq™ panel"
Author: Marcel Nelen (Marcel.Nelen@radboudumc.nl)
Affiliation: Dept. of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands
Recommended Application Germ line mutation detection Recommended Configuration Sample per Chip: 8 per 318 chip
Minimum coverage: 684
Sample Type High molecular weight DNA
Number of sample in Publication 60 samples Observed Performance Panel uniformity: 93.05%
Reads on-targets: 98.42%
Input DNA required 2 pool
20 ng total
Disease Research Area: Developmental Disorders
  • Chip Calculator
  • 2 (20 ng)
  • Pools (Input DNA) Multiple Pools
  • Pool1: 136 amplicons | Pool2: 132 amplicons
  • 26.99 kb
  • Panel Size