Next Generation Sequencing (NGS)

In‑house targeted enrichment NGS panel for RNA profiling from tissue samples (FFPE). It analyzes 43 genes using a splice‑aware probe design anchored to exon boundaries. Detects fusions in a partner-agnostic manner, complex splicing variants, and gene expression profiles in a single workflow. Detailed Description Principle of operation End‑to‑end solution based on hybrid capture enrichment chemistry…

In‑house targeted enrichment NGS panel exclusively for liquid biopsy (cfDNA). It analyzes 43 genes with ESCAT I and II clinical evidence. Includes library preparation through an optimized workflow (DNA‑only) for plasma samples. Detects SNVs, Indels, CNVs, fusions and 36 microsatellite instability (MSI) markers. Detailed Description Principle of operation End‑to‑end solution based on hybridisation and capture…

In‑house targeted enrichment NGS panel for pan‑cancer solid tumor profiling. It analyzes 115 genes (79 with complete CDS) with ESCAT I, II and III clinical evidence. Includes library preparation through a flexible workflow that allows processing FFPE and cfDNA samples together or separately. Detects SNVs, Indels, CNVs, fusions, structural variants and MSI. Detailed Description PRINCIPLE…

NGS solution for library preparation aimed at the simultaneous identification and profiling of microbial species present in DNA extracted from original samples, through the analysis of the variable regions V1-V4 of the 16S rRNA gene. Product for research use only (RUO) and not intended for diagnostic procedures. Detailed Description Principle of operation VIASURE 16S V1-V4…

Next‑generation sequencing (NGS) assay with hybrid capture enrichment for the detection and whole‑genome sequencing of approximately 200 RNA and DNA viruses relevant to public health. It integrates library preparation, enrichment, sequencing, and data analysis into an optimized workflow of about two days. Detailed Description Principle of operation The panel can start from RNA, DNA, or…

Targeted library preparation workflow for whole‑genome sequencing of influenza A and influenza B from total RNA on Illumina systems. Enables preparation of up to 48 libraries with unique dual indexes and generates sequencing‑ready libraries in less than 9 hours. Detailed Description Principle of operation The IMAP-Flu workflow uses a pool of 16 primers (Influenza A/B…

Amplicon-based NGS library preparation solution aimed at public health surveillance and microbiological research. Accepts DNA or RNA, as well as user-designed or commercial primers, with compatibility with multiple sample types and with almost all Illumina sequencing systems. Detailed Description Principle of operation Amplicon-based library preparation kit built on the same chemistry as COVIDSeq. The workflow…

Directed amplification and sequencing assay to recover and characterize the complete genome of respiratory syncytial virus (RSV) A and B from RNA extracted from positive respiratory samples, using reagents from the Illumina COVIDSeq assay. The provided documentation positions it as a solution oriented to viral surveillance, rapid genomic characterization, and analysis of respiratory samples with…

Next-generation sequencing (NGS) amplicon-based assay for the detection and characterization of SARS-CoV-2. It integrates library preparation, sequencing, and data analysis into a workflow aimed at genomic surveillance and is for research use only. 3.- Detailed Description Principle of operation Illumina COVIDSeq is integrated into a complete workflow for the detection and characterization of SARS-CoV-2, from…

Kit for the qualitative evaluation of the human mycobiota by PCR amplification of the ITS1 region of fungal ribosomal DNA (rDNA) and NGS sequencing. Detailed Description Operating Principle Mycobiota Solution is based on the PCR amplification of the hypervariable ITS1 region of the fungal rDNA, using primers that allow the identification of most fungal populations…

In vitro diagnostic kit based on PCR and Next-Generation Sequencing (NGS) for the qualitative evaluation of the microbiome through the analysis of hypervariable regions of the bacterial 16S rDNA gene. It is designed for human gut microbiota and other biological samples, and can be used as a diagnostic aid in the clinical context of fecal…

Qualitative Research Use Only (RUO) kit for RT-PCR amplification of the complete HIV-1 genome from HIV-1 positive plasma or serum samples. Following amplification, Next Generation Sequencing (NGS) allows for viral genotyping and evaluation of mutations present in the viral genome. Detailed Description Principle of operation The AD4SEQ HIV-1 Whole Genome kit is based on RT-PCR…

Standardized kit for the detection of Hepatitis C Virus (HCV) genotype and the determination of drug resistance through next-generation sequencing (NGS) of the viral genome. It is exclusively intended for HCV-positive plasma or serum samples and is complemented by dedicated software for data visualization and computational analysis. 3.- Detailed Description Operating principle The kit is…

Qualitative in vitro kit for the determination of the hepatitis B virus (HBV) genotype and the identification of drug resistance mutations through PCR amplification of two viral regions followed by NGS sequencing. It is intended for HBV-positive plasma or serum samples. Detailed Description Operating Principle The kit is based on PCR amplification of two regions…

Devyser LynchFAP is a targeted NGS solution for the analysis of germline variants associated with hereditary colorectal cancer syndromes. The assay enables the detection of SNVs, indels, and CNVs in genes related to Lynch syndrome, familial adenomatous polyposis (FAP), and MUTYH-associated polyposis (MAP), also incorporating a specific LR-PCR for the correct localization of variants in…

Devyser HBOC NGS is a fast and robust NGS solution aimed at the detection of germline variants in 12 genes associated with an increased risk of hereditary breast and ovarian cancer: ATM, BARD1, BRIP1, CDH1, CHEK2, NBN, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53. It offers comprehensive and uniform coverage of all coding exons and exon/intron…

Devyser BRCA NGS is a fast and robust NGS solution designed for the detection of genetic variants in the BRCA1 and BRCA2 genes. It offers comprehensive and uniform coverage of all coding exons and exon/intron junctions of both genes. In addition, it includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and copy number…

Devyser BRCA PALB2 NGS is a fast and robust NGS solution designed for the detection of genetic variants in the BRCA1, BRCA2, and PALB2 genes. It offers comprehensive and uniform coverage of all coding exons and exon/intron junctions of both genes. In addition, it includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and…

High-resolution NGS-based HLA typing system that supports multiple sequencing platforms and offers maximum workflow flexibility. Detailed Description HLA-SuBiTo NGStype® is a comprehensive solution for high-resolution HLA typing based on next-generation sequencing (NGS), developed by inno-train Diagnostik. The system allows the simultaneous analysis of up to 11 HLA loci using a long-range PCR approach, compatible with…

NGS library preparation kit designed for demanding WGS applications, featuring adjustable enzymatic fragmentation, high yield, and more uniform coverage even from low-input or degraded DNA. The documentation highlights its utility in complex samples, including severely degraded FFPE, and its strong performance in AT- and GC-rich regions. Detailed Description Operating Principle This library preparation solution is…

Comprehensive system for NGS methylation analysis combining enzymatic conversion, target enrichment, and high-performance methylation panels to identify methylated regions with greater efficiency, less DNA damage, and optimized sequencing metrics. The solution is designed for epigenetics, oncology, and the discovery of differentially methylated regions. Detailed Description Operating Principle This is an end-to-end sample preparation and enrichment…

Target enrichment solution for long-read sequencing that combines preconfigured panels and customizable options to study complex genomic regions with high uniformity, balanced coverage, and precise analysis of SNPs, indels, and structural variants. Detailed Description Operating Principle The workflow integrates Twist's targeted enrichment technology with long-read sequencing to efficiently capture genomic regions of interest at scale.…

Spike-in panels designed to complement exome sequencing through evenly distributed genome-wide coverage, aimed at improving the detection of copy number variations (CNVs). Available in three probe densities—100 kb, 50 kb, and 25 kb—they seamlessly integrate into standard Twist target enrichment and capture workflows. Detailed Description Operating Principle Exome sequencing focuses on coding regions and other…

NGS sequencing assay designed for independent sample identity confirmation in WES, WGS, and gene panel workflows, providing an additional layer of traceability and integrity control from sample receipt to final analysis. It generates a unique genetic fingerprint with a simple workflow and an automated report to facilitate data interpretation. Detailed Description Operating Principle The sample…

Exome designed to provide comprehensive coverage of coding regions, with additional content in clinically relevant non-coding regions. Detailed Description Operating Principle SureSelect Clinical Research Exome V4 is based on library preparation and exome capture enrichment, combining broad coverage of human coding regions with enhanced content in clinically relevant non-coding regions. Its design incorporates genomic findings…

Devyser Thalassemia v2 is a fast and robust NGS solution designed for the detection of genetic variants in alpha and beta thalassemia. It offers comprehensive coverage of the globin genes HBA1, HBA2, HBB, HBD, HBG1, and HBG2, and includes the detection of single nucleotide variants (SNVs), insertions/deletions (Indels), and copy number variations (CNVs). Additionally, it…

A comprehensive solution combining a capture-based enrichment kit and the SOPHiA DDM™ platform for advanced clinical exome analysis, featuring targeted enhancements to increase coverage in critical regions and detect complex variants in a single workflow. Detailed Description Operating Principle A genomic application integrating a capture enrichment kit with the advanced analytical modules of the SOPHiA…

Cloud-based bioinformatics platform for the standardized and automated analysis of microbiology sequencing data, complemented by hospital genomic surveillance to detect, track, and prevent infections and antimicrobial resistance (AMR). Rapid cloud genomic analysis with seamless integration into hospital workflows; ISO-certified data management, and support from bioinformatics specialists. Fast, user-friendly, and maintenance-free service. Product Description A solution…

NGS panel for hereditary cancer studies integrating the analysis of 113 clinically relevant genes with a rapid workflow and high coverage uniformity for the consistent detection of SNVs, indels, and CNVs. Detailed Description Operating Principle An end-to-end solution based on hybrid capture of 113 genes (all exons covered plus ±20 bp regions) and library preparation…

SeqOne is an in vitro diagnostic platform for genetic analysis, designed to help healthcare professionals interpret next-generation sequencing (NGS) and array CGH data. The platform provides qualitative and actionable results, functioning as a clinical decision support system. Key features It is an in vitro diagnostic medical device, Class C with CE-IVD marking and certified according…