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Detect challenging variants across multiple indications with one comprehensive application that eliminates the need for multiple targeted tests. Reduce hands-on time, lower costs, and future-proof your genomic analysis with a single streamlined workflow.
SOPHiA DDM™ Enhanced Exome Solutions combine a trusted exome backbone with targeted probe and analytical enhancements to increase sensitivity and enable complex variant detection. One efficient workflow supports carrier screening, pharmacogenomics, and hereditary cancer applications.
Reduce hands-on time by eliminating send-outs and covering carrier screening, PGx, and hereditary cancer indications in a single workflow.
| Clinical Exome | Whole Exome | |
| Exome backbone content | 6,380 genes Mitochondrial genome ~200 non-coding variants with known pathogenicity |
19,425 genes Mitochondrial genome |
| Hereditary cancer enhancement | 140* genes | |
| Pharmacogenomics enhancement | 74 genes | |
| Carrier screening enhancement | 155 genes | |
| Detected variants |
General: SNVs, Indels, CNVs, mitochondrial variants, Alu insertions, star alleles Specific: Large deletions in HBA1/HBA2, gene/pseudogene analysis (CYP21A2, CYP2D6, HBA1, PMS2, SMN1, TNXB), Boland inversions, CFTR repeat regions |
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| Sample type | Blood | |
| Starting material | 50 ng DNA | |
| Panel size (with 3 enhancements) | ~16.5 Mb | ~43 Mb |
| Multiplexing (with 3 enhancements) Max number of samples per lane for 30M (clinical exome)/80M (whole exome) reads per sample |
NextSeq® 550, high-output – 24 NextSeq® 550, mid-output – 8 NextSeq® 1000/2000, P2 XLEAP – 24 NextSeq® 1000/2000, P4 XLEAP – 120 NovaSeq™ S2 (1 lane) – 120 NovaSeq™ S4 (1 lane) – 144 |
NextSeq® 550, high-output – 8 NextSeq® 1000/2000, P2 XLEAP – 8 NextSeq® 1000/2000, P4 XLEAP – 40 NovaSeq™ S2 (1 lane) – 48 NovaSeq™ S4 (1 lane) – 60 |
| Library prep time | 2 days | |
*Enhancements are added for 94 genes; the rest are already covered by the exome backbone.
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.
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