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NGS HEME BIOINFORMATICS - NGSB3
NGSB3
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 Activities
Archer VariantPlex Myeloid (DNA Input)
1
Two online activities per year
Illumina TruSight Myeloid Sequencing Panel
1
Thermo Fisher Oncornine Myeloid Assay
1
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.
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%.
Program Information
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
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