SOPHiA Extended Myeloid Solution

Expand the scope of myeloid neoplasms management

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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.

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. Thanks to its comprehensive range of variants covered, SOPHiA Extended Myeloid Solution improves operational efficiency, reduces turnaround time and costs associated with assessment of different blood cancers.
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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
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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, EZH2Download 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
  • Illumina NextSeq® 500/500 High Output kit v2 (2x150bp)
  • Illumina NextSeq® 500/500 Mid Output kit v2 (2x150bp)
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
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Webinars

Robust CNV detection using whole exome sequencing for complex cases

Achieving reliable results with scalable, flexible, and integrated workflow to detect targeted biomarkers in myeloid malignancies

Join and discover how Dr. M. Hussaini of the Moffitt Cancer Center implemented our comprehensive solution covering 98 genes implicated in myeloid disease to detect and assess complex variants in a single experiment.
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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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