Art No | LV3737
NIPT - GeneSGKit Advanced CE-IVD - noninvasive prenatal screening
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Size: 36rxn
Reliable and efficient analysis of point mutations, indels, large indels, ALU insertions and CNVs
Description
OncoClever-GeneSGKit® provides high performance from only 100 ng of DNA.
The design of the capture probes and bioinformatic pipeline guarantees high sensitivity and specificity for detecting variant detection with a recommended average coverage of 300x.
OncoClever-GeneSGKit® has CE-IVD marking and contains reagents to process 36 samples with the relevant bioinformatics analysis using the GeneSystems© platform. OncoClever-GeneSGKit® is designed for the study of 161 genes.
Sistemas Genómicos has developed OncoClever-GeneSGKit® to provide reliable and efficient analysis of point mutations, indels, large indels, ALU insertions and CNVs associated with the diagnosis of germline oncological pathology of heterogeneous origin.
OncoClever-GeneSGKit® has CE-IVD marking and contains reagents to process 36 samples with the relevant bioinformatics analysis using the GeneSystems© platform.
A comprehensive solution, the only one of its kind on the market:
Complete bioinformatics analysis and display of results: OncoClever-GeneSGKit® contains reagents to process 36 samples with the corresponding bioinformatic analysis through the GeneSystems©. The kit, the bioinformatic computation and the display have CE-IVD marking.
Complete bioinformatics analysis and display of results:
The data is computed in less than 48 hrs and recorded against the main open and private databases reporting the prioritised variants according to different algorithms which are easily visualised, filtered and reported through GeneSystems©.
Complete Diagnostic Solution:
Analysis of point mutations, indels, large indels, MNVs and CNVs. Incorporation of 37 genes with high homology pseudogenes and probes covering non-coding regions of 36 genes in which pathological mutations associated with this type of disease have been previously described. The detection of mobile ALU elements is also incorporated.
Speed:
The libraries are ready after just 12 hours of work from 100 ng of DNA.
High sensitivity:
Average coverage of 300x, ensuring the reliability of the data obtained without the need for alternative validations.
Maximum traceability:
Sample-tracking system through the inclusion of specific probes covering highly polymorphic regions.
GeneSGKit® WORKFLOW
The work process is streamlined to create libraries in a maximum of 12 hours and the technology used allows the multiplexing of up to 12 samples prior to hybridisation and capture of the relevant probes, greatly facilitating the laboratory protocol in the wet phase. It also provides for the combination of different pools from other GeneSGKits® in a single run on Illumina® sequencing platforms, ensuring an equitable distribution of data between the different samples.
GeneSystems©
GeneSystems© is the bioinformatics tool for genetic diagnosis and research and a platform registered as a medical device with CE marking for diagnostic use in vitro, to process information from massive DNA sequencing, detect variants and help genetic diagnosis.
Developed in a Cloud Computing environment, it can provide access your data from any computer device, at any time and place, without consuming the user’s own resources.
GeneSystems© is designed to provide a solution to the different stages of the NGS data analysis step:
FEATURES OF GENESYSTEMS©
Integral infrastructure bioinformatic analysis for the data analysis from NGS platforms.
Automation of the entire data analysis process.
Cloud Computing platform: access from any device with an internet connection.
GENESYSTEMS© – developed by a multidisciplinary team of geneticists, bioinformaticians and engineers, and has been validated by over 200 companies, including hospitals, laboratories, research centres, universities and pharmaceutical companies. The platform has been independently audited and detects SNVs, INDELs, large INDELs, MNVs, ALUs, CNVs and SVs.
Specifications
| References |
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| Sequencing platforms |
Illumina® and MGI |
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