{"product_id":"sophia-ddm-nephropathies-solution-bs0110","title":"SOPHiA DDM™ Nephropathies Solution","description":"\u003cp\u003eSOPHiA DDM™ Nephropathies Solution covers the complete coding sequence (± 5bp of exon-flanking regions) of 44 genes (target region of 105.8 kb) related to a broad range of nephropathies such as nephrotic syndromes, polycystic kidney disorders, Bartter syndromes, Alport syndrome, CAKUT and tubulopathies.\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\u003e44 genes (target region 105.8 kb)\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDiseases covered\u003c\/th\u003e\n\u003ctd\u003eNephrotic syndromes, polycystic kidney disorders, Bartter and Alport syndromes, CAKUT, tubulopathies\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eDetected variants\u003c\/th\u003e\n\u003ctd\u003eSNVs\u003cbr\u003eIndels\u003cbr\u003eCNVs\u003cbr\u003eGene conversion and pseudogene variants in PKD1\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSample type\u003c\/th\u003e\n\u003ctd\u003eBlood\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eStarting material\u003c\/th\u003e\n\u003ctd\u003e200 ng DNA\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003cth\u003eSamples per run\u003c\/th\u003e\n\u003ctd\u003e32 for Illumina MiSeq® v3 (2x300bp)\u003cbr\u003e24 for Illumina MiSeq® v2 (2x250bp)\u003cbr\u003e96 for Illumina NextSeq® 500\/550 Mid Output Kit v2 (2x125bp) and High Output Kit v2 (2x150bp)\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\u003eKey Features\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eUnlock endless possibilities with one platform\u003c\/strong\u003e – Streamline setup and quickly find answers for individuals with genetically inherited diseases with SOPHiA DDM ™ end-to-end workflows. Accurately assess complex variants with a range of ready-to-use and customizable NGS-based applications and community solutions developed and tested by genomic experts.\u003c\/p\u003e\u003cul\u003e\u003cli\u003e\n\u003cstrong\u003eConfidence through collaboration\u003c\/strong\u003e – SOPHiA DDM™ Peer Networks bring experts together across laboratories to share variant interpretations, delivering greater confidence and consistency in complex inherited disorder cases. For Dr. Gilles Millat, SOPHiA DDM™ enables rapid end-to-end case analysis and seamless expertise sharing, strengthening variant classification and informing care for inherited cardiac pathologies.\u003c\/li\u003e\u003c\/ul\u003e\u003ch2\u003eWorkflow\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eTurn raw genomic data into pivotal insights\u003c\/strong\u003e – Simplify your inherited disease genomics workflow, from sample to customized report, with SOPHiA DDM™ and Alamut™ Visual Plus.\u003c\/p\u003e\u003ch2\u003eAnalytics\u003c\/h2\u003e\u003cp\u003e\u003cstrong\u003eChart a course through complex genomic data\u003c\/strong\u003e – Propel the identification of variants linked to genetically inherited diseases with the chemistry and technology-agnostic SOPHiA DDM ™ Platform. Leverage AI-driven algorithms and the shared knowledge within the SOPHiA GENETICS community, while also joining disease-specific peer networks to generate collective insights.\u003c\/p\u003e\u003cul\u003e\n\u003cli\u003e\n\u003cstrong\u003eSensitive SNV and Indel detection\u003c\/strong\u003e – The sophisticated SNV and Indel calling algorithm, PEPPER ™, differentiates true signal from noise specific to each sample type, library prep chemistry, and sequencer. The algorithm allows, for instance, the detection of a 4,977 bp-long deletion associated with several inborn disorders, including the Kearns-Sayre Syndrome (KSS).\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eAccurate CNV calling\u003c\/strong\u003e – The proprietary copy number variation (CNV) calling algorithm, MUSKAT ™, adapts to experimental conditions and performs double normalization to call CNVs missed by other tools. The algorithm accurately detects CNVs across challenging genes like DMD.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eEfficient star allele calling\u003c\/strong\u003e – The accurate star allele calling algorithm, STAR ANISE, leverages the PharmVar database to resolve star allele haplotypes, providing metabolizer status annotations that confidently link genotypes to phenotypes. A specialized CYP2D6 analytical module calls star alleles alongside CNVs, SNVs, Indels, and gene conversion with the CYP2D7 pseudogene.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eRobust variant annotation\u003c\/strong\u003e – The robust variant annotation algorithm, MOKA ™, retrieves information from curated databases and uses de novo analytics to provide insights on the likely effects and pathogenicity of genomic variants.\u003c\/li\u003e\n\u003cli\u003e\n\u003cstrong\u003eSmart variant prioritization\u003c\/strong\u003e – ABCD Pathogenicity Prediction The elegant ABCD variant prioritization approach leverages an AI-driven, community-powered variant classification algorithm to rank variants according to likelihood of pathogenicity.\u003c\/li\u003e\n\u003c\/ul\u003e\u003ch2\u003eDocuments\u003c\/h2\u003e\u003cul\u003e\u003cli\u003e\u003ca href=\"https:\/\/d3e30vlyff459p.cloudfront.net\/2b75c131-2c1d-4268-be32-67d15945dcb8\/438fdcbe-e177-4fe6-863a-f0c9b190fa8b\/438fdcbe-e177-4fe6-863a-f0c9b190fa8b_source__v.pdf\" target=\"_blank\" rel=\"noopener\"\u003eFact Sheet: SOPHiA DDM™ Nephropathies Solution (RUO)\u003c\/a\u003e\u003c\/li\u003e\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\u003eBS0110ILLRGLY10-16\u003c\/td\u003e\n\u003ctd\u003e16\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0110ILLRGLY10-32\u003c\/td\u003e\n\u003ctd\u003e32\u003c\/td\u003e\n\u003c\/tr\u003e\n\u003ctr\u003e\n\u003ctd\u003eBS0110ILLRGLY10-48\u003c\/td\u003e\n\u003ctd\u003e48\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":"16 reactions","offer_id":46798544863311,"sku":"BS0110ILLRGLY10-16","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"32 reactions","offer_id":46798544896079,"sku":"BS0110ILLRGLY10-32","price":0.0,"currency_code":"ILS","in_stock":true},{"title":"48 reactions","offer_id":46798544928847,"sku":"BS0110ILLRGLY10-48","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-nephropathies-solution-bs0110","provider":"danyel biotech","version":"1.0","type":"link"}