SOPHiA Extended Myeloid Solution
Expand the scope of myeloid neoplasms management
SOPHiA Extended Myeloid Solution is a ready-to-use genomic application, designed to empower clinical researchers to make better informed decisions in the assessment of different blood cancers.
This comprehensive solution accurately covers 98 genes, including all the biomarkers present in SOPHiA Myeloid Solution, associated with myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPS), MDS/MPS overlap syndromes, and acute myeloid 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 library in just 2 days
Data analysis from FASTQ files from 6 hours
Accurate detection and annotation of challenging variants, such as SNVs, Indels and CNVs in one unique experiment
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 complex blood cancer variants
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 Extended 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) aligned with recent guidelines.
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
Specifications
Parameters | Extended Myeloid Solution |
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Diseases Covered | Myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN) overlap syndromes MDS/MPN, and acute myeloid leukemia (AML) |
Genes | ABL1, ANKRD26, ASXL1, ASXL2, ATM, ATRX, BCOR, BCORL1, BRAF, BRCC3, CALR, CBL, CBLB, CBLC, CCND2, CDKN2A, CEBPA, CHEK2, CREBBP, CSF3R, CSMD1, CSNK1A1, CTCF, CUX1, DDX41, DHX15, DNMT3A, ELANE, ETNK1, ETV6, EZH2… Download Fact Sheet |
Key Biomarkers | CEBPA, ASXL1, CALR, FLT3 including internal tandem duplications |
Target Region Size | 325 Kb |
Sample Type | Blood and bone marrow |
DNA Input Amount | 200 ng DNA |
Sequencer Compatibility |
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Library Preparation Time | 2 days |
Analysis Time From FASTQ | From 6 hours |
Detected Variants |
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Resources
Fact sheet
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