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Unlock the future of precision medicine with cutting-edge SOPHiA DDM™ technology powering NGS workflows, delivering unparalleled accuracy and ease.
Our pharmacogenomics application was developed in collaboration with leading experts at RNPGx (Réseau Francophone de Pharmacogénétique) to encompass CPIC and FDA recommendations. It quickly and accurately identifies PGx-associated genomic variants of clinical significance, all powered by the advanced analytics of the SOPHiA DDM™ Platform.
CNVs are accurately detected by our MUSKAT™ algorithm alongside SNVs and Indels in a single experiment capable of detecting known and previously undetected variants.
CNVs, star alleles, and promoters/UTRs in CYP2D6 are accurately called, including information for CYP2D6/CYP2D7 pseudogene analysis.
Boost lab efficiency with an end-to-end pharmacogenomics NGS workflow. Perform next-generation sequencing in house, or leverage SOPHiA DDM™ Integrated Access Mode to tap into a global network of sequencing labs. All variant detection and interpretation steps are powered by the SOPHiA DDM™ Platform, giving you full control over your data and samples.
By sequencing tumor-derived cfDNA and normal white blood cell DNA in parallel, you can effectively reduce noise in your data analysis and focus on tumor-specific somatic variants.
Exceptional analytical performance3
PPA, positive percent agreement; VAF, variant allele frequency. a Based on end-to-end concordance analysis between MSK-ACCESS® powered with SOPHiA DDM™ and centralized version of MSK-ACCESS® at MSK, using 48 clinical cfDNA + matched WBC DNA samples; b Correlation of variant allele fraction to reference method.
Traditional PGx testing techniques, such as PCR and arrays, can be labor-intensive and limit the discovery of novel variants. NGS on the other hand, can assess all relevant variants within your region of interest, consolidating multiple workflows into a single experiment, with long-range PCR as a complementary option to resolve ambiguous results.
| Content | 41 genes, 1 pseudogene |
|---|---|
| Applications | Oncology, cardiovascular diseases, psychiatric disorders, pain management, infectious diseases, epilepsy |
| Detected variants | SNVs, Indels, CNVs, star alleles (in the 11 genes indicated above), CYP2D6/7 gene conversion |
| Sample type | Blood |
| Starting material | 200 ng DNA |
| Panel size | 77 kb |
| Multiplexing (samples per run for 1M fragments per sample) | 24 for Illumina MiniSeq™ High Output Kit, 8 for Mid Output 24 for Illumina MiSeq® v3, 16 for v2 384 (CLI) for Illumina NextSeq® 550 High, 96 for Mid |
| Library prep time | 2 days |
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 at [email protected] to obtain the appropriate product information for your country of residence.
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