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NGS BIOINFORMATICS FOR ILLUMINA - NGSB1
Analytes/procedures in bold type are regulated for proficiency testing by the Centers for Medicare & Medicaid Services (CMS).
Challenges per Shipment
Number of Activities
Illumina TruSeq Amplicon Cancer Panel
Two online activities per year
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 some of these 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%.
Sequencing files containing somatic variants to be downloaded into your laboratory bioinformatics pipeline for analysis and reporting; file sizes range from 100MB to 1GB
FASTQ file format for the Illumina TruSeq Amplicon Cancer Panel
Your CAP shipping contact will be notified via email when the activity is available