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Illumina DNA Prep with Exome 2.5 Enrichment

Comprehensive solution for whole exome sequencing with Illumina technology, combining library preparation by tagmentation with capture-based enrichment, sequencing, and bioinformatics analysis, enabling a single workflow.

Illumina Exome Workflow

Detailed Description

Operating Principle

The workflow uses magnetic bead-linked transposomes (eBLT) for rapid and uniform tagmentation. Following index PCR, a hybrid capture enrichment step is performed using the Twist Bioscience for Illumina Exome 2.5 panel. Once the process is complete, the libraries are ready for sequencing. Additionally, secondary and tertiary analyses are seamlessly handled by the DRAGEN™ and Emedgene modules, respectively.

Illumina Library Preparation

Clinical Applications

Whole exome sequencing (WES) is currently an essential tool in clinical practice for identifying genomic alterations with diagnostic and/or therapeutic relevance. Compared to whole genome sequencing, it offers lower costs and optimal coverage of the coding regions of the human genome, facilitating more precise diagnoses and informed medical decision-making.

Benefits

Improved coverage: optimized panel to cover clinically relevant regions according to RefSeq, CCDS, ACMG, COSMIC, and OMIM databases. Content flexibility: option to add a panel to capture the mitochondrial genome or other complementary panels, easily adapting to all laboratory needs. Comprehensive solution with support across all protocol steps through a single vendor. Uniformity: consistent sequencing performance across libraries. Scalability across multiple Illumina sequencing systems.

Intended Audience/User

Molecular diagnostic laboratories working with human genomic DNA samples to diagnose genetic diseases using whole exome techniques.

Key Features

Curated and updated coverage: includes RefSeq, CCDS, ACMG, COSMIC, and OMIM reference regions, with high coverage of clinically relevant variants according to ClinVar and ACMG databases.
Efficient library preparation: eBLT technology and integrated normalization for inputs ≥ 50 ng.
Complete workflow: from sample to final report, compatible with automated analysis using DRAGEN™ and Emedgene.
Scalability and cost-efficiency: allows processing a variable number of samples per batch depending on the sequencing platform used and the desired sequencing depth.
Expanded content: includes a panel to study the complete mitochondrial genome and the option for customized complementary panels.
Validated automation platforms.

Ordering Information

Kit Components
20077595 Illumina DNA Prep with Exome 2.5 Enrichment, (S) Tagmentation Set B (96 samples, 12‑plex)
20077596 Illumina DNA Prep with Exome 2.5 Enrichment, (S) Tagmentation Set D (96 samples, 12‑plex)
20091654 UD Indexes (96 indexes/96 samples): Set A
20091656 UD Indexes (96 indexes/96 samples): Set B
20091658 UD Indexes (96 indexes/96 samples): Set C
20091650 UD Indexes (96 indexes/96 samples): Set D
Additional Reagents (Extraction from Blood)
20018706 Flex Lysis Reagent Kit (96 reactions). Required for direct input of unextracted peripheral blood.
Optional Enrichment Panels
20093180 Twist Bioscience for Illumina Mitochondrial Panel (96 samples, 12‑plex). Full coverage of chrM (16,659 bp; 37 genes).
Inquire Illumina Custom Enrichment Panel v2, custom spike-in to expand content or deepen coverage in specific genomic regions.

Area:

Exomes, Hereditary and/or Rare Diseases, Molecular Genetics

Brand:

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