SOPHiA DDM™ Enhanced Whole Exome Solution

SKU: BS0141ILLRGLY10-32

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SOPHiA DDM™ Enhanced Whole Exome Solution fully covers the coding regions (±5bp of intronic regions) of 20,072 genes, the entire mitochondrial genome, and non- coding variants known to be associated with rare and inherited disorders. The hereditary cancer, carrier screening, and pharmacogenomics enhancements boost coverage of 94, 155, and 74 genes, respectively.

Detect challenging variants across multiple indications with one comprehensive application that eliminates the need for multiple targeted tests.

Sample-to-report bundle: capture-based target enrichment and library preparation kit combined with the analytical capabilities of the SOPHiA DDM™ Platform.

Specifications

Gene content	20,072 genes Mitochondrial genome >1,750 non-coding variants with known pathogenicity
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, GBA, HBA1, PMS2, SMN1, TNXB), Boland inversions, CFTR repeat regions
Sample type	Blood, saliva
Starting material	50 ng DNA
Target region size	~43 Mb
Samples per run	NextSeq® 550, high-output – 8 NextSeq® 1000/2000, P2/P3/P4 XLEAP – 8/24/36 NovaSeq™ S2/S4 – 36/48 NovaSeq™ X 1.5B/10B – 32/192 MGI DNBSEQ-T7 – 120 Element AVITI, high-output – 16
Library preparation time	2 days
Regulatory status	Research Use Only (RUO)

Boost laboratory efficiency without compromising quality

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.

Consolidated workflows – Reduce hands-on time by eliminating send-outs and covering carrier screening, PGx, and hereditary cancer indications in a single workflow.

Futureproofed genomic analysis – Avoid panel re-design iterations and enable reflex testing by simply editing gene lists through virtual panels.

Challenging variant detection – Utilize dedicated algorithms to detect variants such as CNVs, Alu insertions, star alleles, gene/pseudogene pairs, and Boland inversions.

Advanced analytical performance – Leverage extensive expertise in probe design and data science to achieve the same sensitivity as targeted panels with this comprehensive application.

Streamlined variant interpretation – Quickly interpret results with extensive variant annotation complemented by time-saving prioritization, filtering, and visualization.

Join the SOPHiA DDM™ Community – Benefit from indication-specific community knowledge-sharing for more informed variant interpretation while retaining control of your data.

Streamline your variant detection and analysis workflow

Boost 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.

Your exome, your way – 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.

Documents

Ordering Information

Product code	Reactions
BS0141ILLRGLY10-32	32
BS0141ILLRGLY10-48	48
BS0141ILLRGLY10-96	96
BS0141ILLRGLX10-384	384

For Research Use Only. Not for use in diagnostic procedures.

Specifications

Content specifications 20,072 genes; Mitochondrial genome; >1,750 non-coding variants with known pathogenicity
Hands on time 2 days
Input quantity 50 ng DNA
Instruments Illumina
Multiplexing NextSeq® 550, high-output – 8; NextSeq® 1000/2000, P2/P3/P4 XLEAP – 8/24/36; NovaSeq™ S2/S4 – 36/48; NovaSeq™ X 1.5B/10B – 32/192; MGI DNBSEQ-T7 – 120; Element AVITI, high-output – 16
Pack size 32, 48, 96, 384 reactions
Regulations Research Use Only (RUO)
Specialized sample types Blood, saliva
Sub category Enhanced Exome
Variant class General: SNVs, Indels, CNVs, mitochondrial variants, Alu insertions, star alleles; Specific: Large deletions in HBA1/HBA2, gene/pseudogene analysis (CYP21A2, CYP2D6, GBA, HBA1, PMS2, SMN1, TNXB), Boland inversions, CFTR repeat regions

links and documants

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