{"product_id":"sophia-ddm-enhanced-clinical-exome-solution-bs0130","title":"SOPHiA DDM™ Enhanced Clinical Exome Solution","description":"\u003cp\u003eSOPHiA DDM™ Enhanced Clinical Exome Solution covers the coding regions (±5bp of intronic regions) of 6,398 genes, the entire mitochondrial genome and non-coding variants known to be associated with rare and inherited disorders, with optional hereditary cancer, pharmacogenomics and carrier screening enhancements in the same workflow.\u003c\/p\u003e\u003cp\u003eDetect challenging variants across multiple indications with one comprehensive application that eliminates the need for multiple targeted tests.\u003c\/p\u003e\u003cp\u003eSample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.\u003c\/p\u003e\u003ch2\u003eSpecifications\u003c\/h2\u003e\u003ctable\u003e\u003ctbody\u003e\n\u003ctr\u003e\n\u003cth\u003eGene content\u003c\/th\u003e\n\u003ctd\u003e6,398 genes\u003cbr\u003eMitochondrial genome\u003cbr\u003e~200 non-coding variants with known pathogenicity\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eHereditary cancer enhancement\u003c\/th\u003e\n\u003ctd\u003e140 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003ePharmacogenomics enhancement\u003c\/th\u003e\n\u003ctd\u003e74 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eCarrier screening enhancement\u003c\/th\u003e\n\u003ctd\u003e155 genes\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eGeneral: SNVs, Indels, CNVs, mitochondrial variants, Alu insertions, star alleles\u003cbr\u003eSpecific: Large deletions in HBA1\/HBA2, gene\/pseudogene analysis (CYP21A2, CYP2D6, GBA, HBA1, PMS2, SMN1, TNXB), Boland inversions, CFTR repeat regions\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood, saliva\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e50 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eTarget region size\u003c\/th\u003e\n\u003ctd\u003e~16.5 Mb\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003eNextSeq® 550, mid\/high-output – 8\/24\u003cbr\u003eNextSeq® 1000\/2000, P2\/P4 XLEAP – 24\/120\u003cbr\u003eNovaSeq™ S2\/S4 – 120\/144\u003cbr\u003eNovaSeq™ X 1.5B\/10B – 96\/384\u003cbr\u003eMGI DNBSEQ-T7 – 384\u003cbr\u003eElement AVITI, high-output – 60\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eLibrary preparation time\u003c\/th\u003e\n\u003ctd\u003e2 days\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eRegulatory status\u003c\/th\u003e\n\u003ctd\u003eResearch Use Only (RUO)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\u003c\/table\u003e\u003ch2\u003eBoost laboratory efficiency without compromising quality\u003c\/h2\u003e\u003cp\u003eDetect 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.\u003c\/p\u003e\u003cp\u003eSOPHiA 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.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eConsolidated workflows\u003c\/strong\u003e – Reduce hands-on time by eliminating send-outs and covering carrier screening, PGx, and hereditary cancer indications in a single workflow.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eFutureproofed genomic analysis\u003c\/strong\u003e – Avoid panel re-design iterations and enable reflex testing by simply editing gene lists through virtual panels.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eChallenging variant detection\u003c\/strong\u003e – Utilize dedicated algorithms to detect variants such as CNVs, Alu insertions, star alleles, gene\/pseudogene pairs, and Boland inversions.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eAdvanced analytical performance\u003c\/strong\u003e – Leverage extensive expertise in probe design and data science to achieve the same sensitivity as targeted panels with this comprehensive application.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eStreamlined variant interpretation\u003c\/strong\u003e – Quickly interpret results with extensive variant annotation complemented by time-saving prioritization, filtering, and visualization.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eJoin the SOPHiA DDM™ Community\u003c\/strong\u003e – Benefit from indication-specific community knowledge-sharing for more informed variant interpretation while retaining control of your data.\u003c\/p\u003e\u003ch2\u003eStreamline your variant detection and analysis workflow\u003c\/h2\u003e\u003cp\u003eBoost lab efficiency with a single streamlined end-to-end 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.\u003c\/p\u003e\u003cp\u003e\u003cstrong\u003eYour exome, your way\u003c\/strong\u003e – Add targeted probe and analytical enhancements to standard SOPHiA DDM™ Exome Solutions to create the Enhanced Exome Solution that meets the specific needs of your institution.\u003c\/p\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/821804da-fa0b-4a0b-9218-5e6637ba1bed\/821804da-fa0b-4a0b-9218-5e6637ba1bed_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: Enhanced Clinical Exome Fact Sheet\u003c\/a\u003e\u003c\/li\u003e\n\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/4fe22b5c-de6c-49f8-9ad7-eb204273d27c\/4fe22b5c-de6c-49f8-9ad7-eb204273d27c_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFlyer: SOPHiA DDM™ Exome Solutions\u003c\/a\u003e\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eOrdering Information\u003c\/h2\u003e\u003ctable\u003e\n\u003cthead\u003e\u003ctr\u003e\n\u003cth\u003eProduct code\u003c\/th\u003e\n\u003cth\u003eReactions\u003c\/th\u003e\n\u003c\/tr\u003e\u003c\/thead\u003e\n\u003ctbody\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0130ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0130ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003e48\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0130ILLRGLY10-96\u003c\/td\u003e\n\u003ctd\u003e96\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0130ILLRGLX10-384\u003c\/td\u003e\n\u003ctd\u003e384\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003c\/tbody\u003e\n\u003c\/table\u003e\u003cp\u003e\u003cem\u003eFor Research Use Only. Not for use in diagnostic procedures.\u003c\/em\u003e\u003c\/p\u003e","brand":"SOPHiA GENETICS","offers":[{"title":"32 reactions","offer_id":46798544666703,"sku":"BS0130ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798544699471,"sku":"BS0130ILLRGLY10-48","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"96 reactions","offer_id":46798544732239,"sku":"BS0130ILLRGLY10-96","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"384 reactions","offer_id":46798544765007,"sku":"BS0130ILLRGLX10-384","price":0.0,"currency_code":"ILS","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0712\/0748\/5519\/files\/sophia-genetics-logo.png?v=1789657266","url":"https:\/\/www.danyel.co.il\/products\/sophia-ddm-enhanced-clinical-exome-solution-bs0130","provider":"danyel biotech","version":"1.0","type":"link"}