SOPHiA Myeloid Plus Solution

Expand the scope of myeloid neoplasms management

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SOPHiA Myeloid Plus Solution is a ready-to-use genomic application that enables accurate characterization of DNA and RNA-based fusions associated with different blood cancers.

It combines a capture-based target enrichment kit with the advanced analytical capabilities of the SOPHiA DDM™ platform, providing high-quality and reproducible data through a streamlined workflow from sample to report.

This comprehensive solution accurately covers 30 genes already covered in the SOPHiA Myeloid Solution and 119 RNA-based fusions associated with myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia.

Through a streamlined, customizable, and scalable NGS-based workflow, SOPHiA Myeloid Plus Solution reduces turnaround time and improves the efficiency of assessing complex variants associated with blood cancers.

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Highlights

  • Ready-to-use target enriched libraries in just 1.5 days for DNA and 6 hours for RNA
  • Data analysis from FASTQ files from 4 hours
  • Uniform coverage of DNA alterations and RNA-based fusions (e.g., CALR, CEBPA, FLT3, including internal tandem duplications) aligned with recent guidelines
  • Accurate detection and annotation of challenging variants, such as SNVs, Indels, CNVs, fusions, FLT3 internal tandem duplications
  • Streamlined interpretation with the SOPHiA DDM™ intuitive variant filters, algorithm-supported variant classification, and access to:
  • OncoPortal™ to obtain the latest scientific evidence on all relevant variants
  • One of the largest networks of connected healthcare institutions to gain and share knowledge on relevant variants
Designing an NGS solution for myeloid neoplasms can be challenging, given the evolving scientific literature as well as the significant resources that are required for test development, bioinformatic analyses, etc. SOPHiA GENETICS has demonstrated the ability to obtain excellent coverage of challenging gene regions such as CEBPA, robust variant calling for challenging variants such as large FLT3 internal tandem duplications, and an efficient approach for detecting clinically relevant gene fusions which can be cytogenetically cryptic. In addition, their willingness to partner with laboratories has enabled us to minimize lab resources while developing a cutting-edge myeloid NGS panel with custom content and in-house interpretation.
Noah Brown, MD

Associate Professor of Pathology, Director, Molecular Diagnostic Laboratory

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Specifications

Parameters Myeloid Plus Solution
Addressed Diseases Myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia
Covered Genes 30 genes (10 with complete coding sequences.) Panel:
ABL1, ASXL1, BRAF, CALR, CBL, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, HRAS, IDH1, IDH2, JAK2, KIT, KRAS, MPL, NPM1, NRAS, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, TET2, TP53, U2AF1, WT1, ZRSR2
RNA fusions covering 119 key genes associated with leukemia. Download fact sheet
Key Biomarkers CEBPA, CALR, FLT3 including internal tandem duplications
Starting Material 200 ng DNA
500 ng RNA
Sample Type Blood and bone marrow
Sequencer Compatibility
  • Illumina MiSeq® kit v2 (2x250bp)
  • Illumina NextSeq® 500/500 High Output kit v2 (2x150bp)
  • Illumina NextSeq® 500/500 Mid Output kit v2 (2x150bp)
  • Ion Proton™ System Ion 540™ kit
Total Library Preparation Time 1.5 days for DNA
6 hours for RNA
Analysis Time From FASTQ From 4 hours
Detected Variants SNVs
Indels
CNVs
FLT3 internal tandem duplications
Fusions

Dedicated features to ease variant interpretation

The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline interpretation and help reduce turnaround time.

  • Virtual Panels to limit the interpretation to a subset of genes
  • Cascading Filters to enable user-created custom filtering strategies for quicker identification of relevant variants
  • OncoPortal™ to support decisions based on the Jax-CKB™, CAP, ASCO, AMP and other data sources
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Webinars

Robust CNV detection using whole exome sequencing for complex cases

Developing and implementing a comprehensive Myeloid Solution – considerations from a panel that enables accurate DNA alterations and RNA fusions

Discover why and how Dr. N. Brown from the University of Michigan decided to adopt the end-to-end Myeloid Plus workflow. Learn the approach they use to consolidate the biomarker testing to improve the clinical decisions with their in-house expertise.
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Blog

Robust CNV detection using whole exome sequencing for complex cases

Three steps forward in efficient myeloid biomarker learning

More than six people die every hour in the US from a blood cancer. Solutions can’t come fast enough for those who suffer with these cancers all around the world.

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