Molecular Genetics

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…

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…

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…

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…

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…

Distinguish mutated alleles from wild type alleles through fragment analysis.

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…

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,…

Neonatal screening tests for severe combined immunodeficiency, X-linked agammaglobulinaemia or Bruton's disease and spinal muscular atrophy.

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…

Expression study of genes related to Alzheimer’s Disease.

Expression study of genes involved in six fundamental themes of neurodegeneration: neurotransmission, neuron-glia interaction, neuroplasticity, cell structure integrity, neuroinflammation, and metabolism.

Study of genes involved in core metabolic processes and immunometabolism.

Study of the genes which participate in the fibrotic process.

Endometrial Receptivity Test to improve the clinical pregnancy of IVF-ET (In vitro Fertilization & Embryo Transfer).