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NGS HEME BIOINFORMATICS - NGSB3
Analytes/procedures in bold type are regulated for proficiency testing by the Centers for Medicare & Medicaid Services (CMS).
Challenges per Shipment
Number of Activities
Archer VariantPlex Myeloid (DNA Input)
Two online activities per year
Illumina TruSight Myeloid Sequencing Panel
Thermo Fisher Oncornine Myeloid Assay
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.
Laboratories will be asked to identify somatic single nucleotide 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 program includes variants present with a variant allele fraction (VAF) potentially as low as 5%.
Sequencing files containing somatic variants to be downloaded and incorporated into your laboratory bioinformatics pipeline for analysis and reporting; file sizes range from 100MB to 1GB
The BAM and/or FASTQ files are platform‑specific and cannot be used with other instruments/software.
Your CAP shipping contact will be notified via email when the activity is available