BRCAaccuTest™ and BRCAaccuTest™ PLUS are a reagent kit for producing libraries for analyzing the BRCA1 and BRCA2 genes using the next generation sequencing (NGS) method, which analyzes genomic DNA
Droplex is a companion diagnostic solution for targeted therapy and precision medicine. Companion diagnostic tests are to help cancer patients to identify what type of genetic mutation is in cancer
Haemochromatosis is a common recessive disorder characterised by progressive iron overload. Unfortunately it is little considered and it is often accidentally discovered in periodic check or due to
or homozygous state. The mutation is defined as "gain-of-function mutation" as it results in a constitutive activation of the JAK- STAT, which is able...for the mutant. The V617F mutation, is due to a nucleotide substitution G> T at nucleotide 1849 of exon 14, which causes the substitution of valine...of inhibitory JH1. It is an acquired somatic mutation, present only in myeloid cells (erythroid, granulocyte-macrophage line, platelet lineage) heterozygous...t(11;14)(Q13;Q32) enables you to diagnose mantle cell lymphoma (MCL), which represents 6% of non-Hodgkin's lymphomas. Genetic alterations associated with the disease...and PML- RARa are formed as a result of reciprocal translocation between the PML and RARa loci. - The Kit Ampli set FTL3 ITD allows ITD mutation detection...- The Kit Ampli Set FTL3 D835-Mt allows the identification of the mutation D835-Mt, which consists of a nucleotide substitution such that the amino...acid encoded is no longer aspartic acid (D), but more frequently a tyrosine residue or D835Y a residue of valine D835V. Rarely the mutation is D835H,...D835E or D835N. The mutation involves the loss of a restriction site for the enzyme Eco RV. The mutation is detected by PCR with specific oligonucleotides...Mutation System-PCR), the wild-type allele (normal) and mutated. In particular, we obtain an amplified 229 bp for the normal allele and one of 279 bp...with phenylalanine at codon 617 (GTC> TTC). This mutation involves a portion of the domain of JAK2 pseudokinasic JH2, crucial in controlling the activity
Genomic sequencing accuracy determines whether a person is diagnosed with a genetic disease. In recent years, next generation sequencing has emerged...in clinical applications, especially in the treatment of genetic disorders. Due to the high level of variation in next generation sequencing data, artificial...our team has consolidated big data and, in 2016, developed a gene mutation viewer (MViewer). In 2020, we also implemented a machine learning-based AI_VP...from overseas, such as AMELIE, VarElect, and Exomiser. According to our results, the answers generated by our smart genetic variant interpretation model accounted...Innovation Award for their recognition of our efforts in developing a system that significantly reduces the time required for genetic variant interpretation...as well as improving the accuracy of the interpretation. The next generation sequencing-based genetic variant screening platform developed as part...of this program offers high clinical relevance as it provides patients with a means of locating the pathogenic variants causing their genetic diseases, thereby...expediting the diagnosis process. Furthermore, the model can be used as a prenatal testing instrument to check whether a genetic disease is present in a new
DxLiquid, our ctDNA products, provides a comprehensive analysis for the diagnosis of genetic mutations in various cancers. Our panels analyze the data...collected by integrating SNV, InDel, CNV, RNA-fusion, MSI (Microsatellite Instability), and TMB (Tumor Mutation Burden) information, enabling precise...instability(MSI), Tumor Mutation Burden - Variant classification guideline automatically applied - Visualized and comprehensive report
of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series...of tumors including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic
Mylab’s OncoScreen portfolio of products provides a complete diagnostic detection kit for determining an individual’s mutation status....OncoScreen helps better understand the genetic events that underlie tumour development and progression has led to improvements in patient healthcare.
to reveal genetic mutations, chromosomal rearrangements, chromosomal translocations, insertions, deletions, viral, bacterial, parasitic diseases much faster...and with a higher sensitivity and specificity. As genetic and protein target, the cause of a disease can be found more precisely, allowing the most suitable therapy...oncology and epigenetic, haemostasis and thrombosis, hemochromatosis, virology, neurology, infertility, panel for the predisposition to inflammation,
DiaCarta based in California has developed cancer tests using blood. Key products are: ColoScape - 61 genetic mutations and 6 methylation
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