Menu
Menu
Exceptional analytical performance
CI, confidence interval. The values have been calculated based on SNV/Indel detection in 72 samples processed on Illumina NextSeq® 1000/2000.
Our fusion calling algorithm, CARDAMOM, enables the highly specific DNA-based detection of fusion events, even when one fusion partner is unknown. This expands the potential to uncover novel or rare fusions often missed by other technologies.
Fusions are only reported when they meet strict probabilistic thresholds and are supported by relevant genomic context, helping reduce false positives and increase confidence in the results.
For enhanced precision and relevance, our solution covers both fusion partners for the most relevant, guideline-informed fusions to maximize sensitivity while keeping the potential for discovery high.
Visualize and interpret complex alterations directly in the new generation of the SOPHiA DDM™ Platform.
Key features:
| Content | • Fully covered CDS for 94 genes |
|---|---|
| Diseases Covered | • Acute myeloid leukemia (AML) • Myeloid dysplastic syndrome (MDS) • Myeloproliferative neoplasms (MPN) • Chronic myelomonocytic leukemia (CMML) • Related myeloid malignancies • Selected genes for lymphoid malignancies |
| Detected Variants | • SNVs/Indels • CNVs (gene amplifications and deletions) • FLT3 IDTs • KMT2A PTDs • Partner-agnostic DNA fusions • Chromosomal aberrations: trisomies, monosomies, long arm deletions • Loss of heterozygosity (LoH)* |
| Sample Type | Blood or bone marrow |
| Starting Material | From 50 ng DNA |
| Multiplexing (samples per run) | Illumina NextSeq™ 500/550 (2x150bp): Illumina NextSeq™ 1000/2000 (2x150bp): |
| Library Preparation Time | 1.5 days |
Disclaimer
* The application enables client inference on LoH; future developments are planned to optimize clients' LoH analysis.
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us to obtain the appropriate product information for your country of residence.
All third-party trademarks listed by SOPHiA GENETICS remain the property of their respective owners. Unless specifically identified as such, SOPHiA GENETICS’ use of third-party trademarks does not indicate any relationship, sponsorship, or endorsement between SOPHiA GENETICS and the owners of these trademarks. Any references by SOPHiA GENETICS to third-party trademarks is to identify the corresponding third-party goods and/or services and shall be considered nominative fair use under the trademark law.
