Hereditary and/or Rare Diseases

Next-generation sequencing kit for the comprehensive analysis of genes associated with familial hypercholesterolemia, including a polygenic risk score and a SNP panel for statin response. Detailed Description Operating Principle The Devyser FH kit is an amplicon-based NGS library preparation solution with a single-tube protocol that enables targeted amplification and sample indexing within a streamlined workflow.…

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. 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…

IVDR workflow for whole exome sequencing (WES) that integrates Twist's exclusive double-stranded DNA (dsDNA) probe technology with its library preparation and targeted capture reagents. The result: achieving the best coverage uniformity on the market and superior quality data for clinical environments. Detailed Description Operating Principle The system combines a streamlined library preparation, based on single-tube…

Twist Human Comprehensive Exome and Twist Human Exome 2.0+ are two of the capture solutions for human exome sequencing from Twist Bioscience. The combination of Twist's proprietary double-stranded DNA (dsDNA) probes and its library preparation and capture reagents achieves the best market uniformity of coverage and the lowest duplicate rate, generating the highest quality data…

Twist Human Core Exome and Twist Human Core Exome + Ref Seq are the two capture solutions for human exome sequencing by Twist Bioscience. The superior performance of the Twist Core Exome provides the optimal solution for sequencing human coding genes, while focusing on the most accurate curated subset of genes: that of the CCDS…

Study of the coding regions of more than 19,000 genes by NGS.