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.
The application combines a capture-based target enrichment kit with the advanced analytical capabilities of the SOPHiA DDM™ platform’s, providing high-quality and reproducible data through a streamlined workflow from sample to report.
Highlights
- Ready-to-use target enriched library in just 2 days
- Data analysis from FASTQ files from 6 hours
- Uniform coverage of DNA alterations aligned (e.g., CALR, CEBPA, ASXL1, FLT3, including internal tandem duplications) aligned with recent guidelines
- Accurate detection and annotation of challenging variants, such as SNVs, Indels and CNVs in one unique experiment
- 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
Specifications
| Parameters | Extended Myeloid Solution |
|---|---|
| Addressed Diseases | Myelodysplastic syndromes (MDS), myeloproliferative neoplasms (MPN) overlap syndromes MDS/MPN, and acute myeloid leukemia (AML) |
| Covered 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 |
| Starting Material | 200 ng DNA |
| Sample Type | Blood and bone marrow |
| Sequencer Compatibility |
|
| Total Library Preparation Time | 2 days |
| Analysis Time From FASTQ | From 6 hours |
| Detected Variants | SNVs Indels CNVs FLT3 internal tandem duplications |
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
Resources
Webinars
Achieving reliable results with scalable, flexible, and integrated workflow to detect targeted biomarkers in myeloid malignancies
Blog
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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