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NGS BIOINFORMATICS FOR ION TORRENT - NGSB2
NGSB2
Analytes/procedures in bold type are regulated for proficiency testing by the Centers for Medicare & Medicaid Services (CMS).

Analyte/Procedure Challenges per Shipment Number of Shipments
Ion AmpliSeq Cancer Hotspot v2 1 This is an online only program, delivered two times a year; your CAP shipping contact will be notified via email when the activity is available

Additional Information

  • This in silico bioinformatics program is designed to complement and augment somatic variant wet bench NGS proficiency testing programs by testing a greater diversity of variants at a greater range of variant allele fractions.
  • The BAM and/or FASTQ files are platform‑specific and cannot be used with other instruments/software.
  • Laboratories will be asked to identify somatic single nucelotide variants and small insertions/deletions/indels in the following genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL.
  • This Survey includes variants present with a variant allele fraction (VAF) potentially as low as 5%.

Program Information

  • Sequencing files containing somatic variants to be downloaded into your laboratory bioinformatics pipeline for analysis and reporting; file sizes range from 100MB to 1GB
  • BAM and FASTQ file formats for the Ion Torrent AmpliSeq Cancer Hotspot v2 Panel
  • Two online activities per year; your CAP shipping contact will be notified via email when the activity is available.

Shipping Schedule

  • Shipment A: June 3
  • Shipment B: November 25






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