SOPHiA Myeloid Plus Solution
Expand the scope of myeloid neoplasms management
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.
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. The application 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.
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
Accurate detection and annotation of challenging variants, such as SNVs, Indels, CNVs, fusions, FLT3 internal tandem duplications
Streamline interpretation with the SOPHiA DDM™ intuitive variant filters, algorithm-supported variant classification with OncoPortal™ to obtain the latest scientific evidence on all the relevant variants
Have access to one of the largest networks of connected healthcare institutions within SOPHiA DDM™, to gain and share knowledge on relevant variants
Product Details
Confidently asses complete blood cancer variants in DNA and RNA-based fusions
Molecular profiling by next-generation sequencing has introduced a paradigm shift in investigating the pathogenic variants causing different blood cancer disorders. 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 different blood cancers. In addition to the standard uniform coverage of DNA alterations (e.g., CALR, CEBPA, ASXL1, FLT3, including internal tandem duplications) which are offered in our SOPHiA Myeloid Solution, our Myeloid Plus Solution includes 119 RNA-based fusions to get you access to even more insights.
Dedicated features to ease variant interpretation
The SOPHiA DDM™ platform features intuitive variant filters and prioritization options to streamline the interpretation process and greatly 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
“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
Specifications
| Parameters | Myeloid Plus Solution |
|---|---|
| Diseases Covered | Myelodysplastic syndromes, myeloproliferative neoplasms, and leukemia |
| 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 |
| Target Region Size | 49 Kb |
| Sample Type | Blood and bone marrow |
| Input Amount | 200 ng DNA 500 ng RNA |
| Sequencer Compatibility |
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| Library Preparation Time | 1.5 days for DNA 6 hours for RNA |
| Analysis Time From FASTQ | From 4 hours |
| Detected Variants |
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Resources
Fact sheet
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