Targeted study of specific pathologies

Genvinset® deltaF508 is a semi‑automated in vitro diagnostic kit for the qualitative detection of wild‑type and/or F508del alleles of the CFTR gene, associated with cystic fibrosis. The assay is performed on genomic DNA extracted from whole blood using real‑time PCR with TaqMan® probes. Detailed description Key features Genvinset® deltaF508 is designed for the molecular determination…

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…

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.…

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…

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…

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.…

Solutions for the study of genetic alterations associated with different hereditary cancer predisposition syndromes, based on next-generation sequencing and automated analysis using the SOPHiA DDM™ software. Detailed Description SOPHiA GENETICS™️ solutions for hereditary cancer use capture-based NGS technology to achieve uniform coverage of target regions and high on-target rates. The analytical workflow relies on SOPHiA…

Operating Principle: The Devyser CFTR NGS kit redefines the genetic diagnosis of cystic fibrosis by offering a comprehensive and precise solution, validated for clinical use. With a unique single-tube library preparation approach, this kit optimizes the CFTR gene analysis process, significantly reducing hands-on time and contamination risk while improving diagnostic accuracy. Clinical Applications Advances in…

Distinguish mutated alleles from wild type alleles through fragment analysis.

Kit for the determination of healthy, premutation and mutant alleles in the FMR1 gene by fluorescent fragment analysis

Kit for detecting the HLA-C*06 alleles by Real Time PCR using TaqMan® probes technology Information about the product Psoriasis vulgaris is a chronic inflammatory disease of skin, which affects 2% of world population. The cutaneous manifestations of psoriasis are obvious and have a negative impact on quality of life of patients. Family studies have demonstrated…

Kit para la detección de los alelos HLA-DQB1*02, DQB1*03:02, DQA1*05 y DQA1*03 mediante PCR en tiempo real, Kit for detecting the HLA-DQB1*02, DQB1*03:02, DQA1*05 and DQA1*03 alleles by Real Time PCR using TaqMan® probes technology Information about the product Susceptibility to gluten sensitivity is, in part, genetically determined. The strong predisposition is associated with HLA-DQ…

Kit for detecting the S65C mutation of HFE gene by Real Time PCR using TaqMan® probes technology Information about the product Hereditary hemochromatosis (HH) is an autosomal recessive inherited disorder of iron metabolism. Due to excessive intestinal absorption, iron accumulates in the parenchymal cells of the liver, pancreas, heart and other organs resulting in damage to its…

Kit for detecting the H63D mutation of HFE gene by Real Time PCR using TaqMan® probes technology Information about the product Hereditary hemochromatosis (HH) is an autosomal recessive inherited disorder of iron metabolism. Due to excessive intestinal absorption, iron accumulates in the parenchymal cells of the liver, pancreas, heart and other organs resulting in damage to its…

Kit para la detección de la mutación C282Y del gen HFE mediante PCR en tiempo real, utilizando la tecnología de sondas TaqMan® Información sobre el producto La hemocromatosis hereditaria (HH) es un trastorno hereditario autosómico recesivo del metabolismo del hierro. Debido a una absorción intestinal excesiva, el hierro se acumula en las células parenquimatosas del hígado, el…

Kit para la detección del polimorfismo C677T del gen MTHFR por PCR en tiempo real, utilizando la tecnología de sondas TaqMan® Información sobre el producto La metiltetrahidrofolato reductasa (MTHFR) es una enzima clave en el metabolismo del folato. Aunque esta enzima no participa en la cascada de coagulación como otras proteínas (Factor II o el Factor V),…

Kit for detecting the A1298C polymorphism of the MTHFR gene by Real Time PCR using TaqMan® probes technology Information about the product Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate metabolism. Although MTHFR protein does not participate in the clotting cascade as other proteins such as FII and FV (and therefore belonging to the well-known group…

Kit para la detección de la mutación G1691A del gen del Factor V (FV) mediante PCR en tiempo real, utilizando la tecnología de sondas TaqMan® Información del producto El Factor V Leiden es una variante del Factor V de la coagulación humana. Tiene un papel muy importante en la cascada de coagulación. La mutación G1691A…

Kit para la detección de la mutación G20210A del gen de la protrombina mediante PCR en tiempo real, utilizando la tecnología de sondas TaqMan® Información del producto La protrombina (factor II de coagulación) es una glicoproteína sintetizada en el hígado. Es un componente esencial del mecanismo de coagulación. La regulación de la expresión de la protrombina es…

Kit para la detección del polimorfismo -675 4G/5G en el gen SERPINE1 mediante PCR en tiempo real utilizando la tecnología de sondas TaqMan® Información del producto PAI-1 es el componente más importante del sistema fibrinolítico y es el responsable de alrededor del 60% de la actividad inhibidora. PAI-1 es un inhibidor de la serina proteasa perteneciente a…

Kit para la detección del alelo HLA-DQA1*05 mediante PCR en tiempo real utilizando la tecnología de sondas TaqMan®. Información del producto Varios estudios sugieren un papel del factor de necrosis tumoral alfa (TNF) en enfermedades crónicas inmunomediadas, como la enfermedad de Crohn, la enfermedad inflamatoria intestinal (EII), la psoriasis y la artritis reumatoide. Por ello,…

Detection of 6 mutations associated with dihydropyrimidine dehydrogenase deficiency.

Kit for detecting the C13910T and G22018A polymorphisms of the MCM6 gene by Real Time PCR using specific TaqMan® probes technology. Information about the product In most human beings, the ability to digest lactose rapidly decreases after the breastfeeding period (primary lactose intolerance). This is due to a reduction in the lactase-phlorizin hydrolase enzyme (LPH), which is…

Study of genes associated with heart diseases.

Study of the 44 most clinically relevant genes related to nephropathies.

Kit for the determination of the CTG triplet repeats number of the DMPK gene by fluorescent fragment analysis

Kit for the determination of the CAG and CTA/CTG triplet repeats number (SCAs 1, 2, 3, 6, 7 and SCA 8, respectively) by fluorescent fragment analysis