Hemato-oncology

Hemato-oncology

HEMATO-ONCOLOGY

Hematological tumors represent the fourth most frequent cancer type in the developed world.

The seamless SOPHiA DDM™ for Blood Cancers portfolio offers researchers competitive advantages that can positively impact disease management.

All our solutions enable in-house identification of hematological disorders’ variants and offer valuable insights, allowing you to streamline your decision-making.

WHAT DO WE OFFER?

Molecular profiling by next-generation sequencing has introduced a change for investigating the pathogenic variants causing different blood cancer disorders.

In addition to the continuously evolving clinical guidelines, all the available information when investigating hematological disorders into meaningful insights can be outdated, inaccurate, costly, and time-consuming. These risks limit researchers’ productivity, thus leading to potential delayed or inaccurate diagnoses.

The SOPHiA DDM™ for Blood Cancers portfolio allows the detection and characterization of complex genomic variants.

MYELOID SOLUTION (MYS)

SOPHiA DDM™ 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 cancer disorders with the following characteristics:

DESIGN AND CHALLENGES

It was possible to remove recurrent artifacts and PCR errors with this solution. The solution correctly called Indels, and large deletions and we gained the ability to detect large insertions in FLT3 without using additional tools.

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. However, SOPHiA GENETICS has demonstrated the ability to obtain excellent coverage of challenging gene regions.

Myeloid Solutions

SPECIFICATIONS

  • Ready-to-use target enriched library in just 2 days.
  • Data analysis from FASTQ files in as little as 4 hours.
  • Accurate detection and annotation of challenging variants, such as SNVs, Indels, CNVs, fusions, and FLT3 internal tandem duplications in one unique experiment.
  • Intuitive variant filters, algorithm-supported variant classification with OncoPortal™.
  • Access to one of the largest networks of connected healthcare institutions within SOPHiA DDM™.

LYMPHOMA SOLUTION (LYS)

SOPHiA DDM™ Lymphoma Solution is a ready-to-use genomic application, designed to empower clinical researchers to make better-informed decisions in the assessment of different lymphoma types with the following characteristics:

COVERAGE

This comprehensive solution accurately covers fifty-four genes associated with B- and T-cell , lymphomas such as diffuse large B-cell, follicular, mantle cell, and Burkitt lymphoma.

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.

Lymphoma Solution

Solucion_Linfoma

SPECIFICATIONS

  • Ready-to-use target enriched library in just 1.5 days.
  • Compatible with blood and FFPE samples. Data analysis from FASTQ files in as little as 4 hours.
  • Data analysis from FASTQ files in as little as 4 hours.
  • Accurate detection and annotation of challenging variants, such as SNVs, Indels, and gene amplifications.
  • Algorithm-supported variant classification with OncoPortal™.
  • Access to one of the largest networks of connected healthcare institutions within SOPHiA DDM™.

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