Art No | LV4563
OncoClever-GeneSGKit - CE-IVD
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Noninvasive prenatal screening for chromosomal aneuploidis
Description
The most flexible and complete end-to-end solution in diagnostic sequencing
- NIPT-GeneSGKit® Advanced allows detection of chromosomal
abnormalities in the fetus at an early stage of the pregnancy, as well as the gender of the fetus using a sample of maternal blood. It examines all the chromosomes. - NIPT-GeneSGKit® Advanced identifies microdeletions related to 10 important genetic syndromes.
- NIPT-GeneSGKit® Advanced is an integrated solution that includes bioinformatics analysis, visualization and personalized report by GeneSystems© platform.
- This system, optimized and friendly-use, allows a fast implementation in lab routines, without needs of extra resources to maximize the number of processed samples.
- Trisomy 21 associated with Down’s syndrome
- Trisomy 18 associated with Edwards’ syndrome
- Trisomy 13, associated with Patau syndrome
- Sex chromosome aneuploidies:
- Turner syndrome (45, X0)
- Klinefelter syndrome (47, XXY)
- Triple X syndrome (47, XXX)
- Jacobs syndrome (47, XYY)
- Polisomy X
- Microdeletions and determined microduplications
- Mosaicisms (according to cfDNA)
NIPT-GeneSGKit® Advanced has a high precision, supported by strict validation processes. Its combination with other prenatal studies (fetal ultrasound or biochemical screening performed in the first trimester), allows the reduction of false positives to less than 0.1%.
The result is a drastic decrease in unnecessary invasive tests, with a significant benefit for pregnant women and the health system itself.
NIPT-GeneSGKit® Advanced can be performed from week 9 of pregnancy (with a minimum fetal fraction of 3.5%). It is particularly indicated in women who want to rule out chromosomal aneuploidies regardless of their genetic condition or family history, it can be used for all pregnant women, including pregnancies achieved through assisted reproductive techniques and oocyte donation and twins genetically identical, or twins not genetically identical if fetal fraction is suitable for the test allowing aneuploidies detection in both fetus.
NIPT-GeneSGKit® Advanced is CE-IVD marked and contains reagents to process 12-48 samples with the corresponding bioinformatics analysis, visualization and personalized report by the GeneSystems© platform.
The work process involves a “hands-out” manipulation time, completed in 3 hours, once the circulating free DNA (cfDNA) has been obtained. This process can be fully automated or be done manually (e.g. for low sample numbers).
Validated complete bioinformatic analysis.
Simple and immediate generation of individualized reports.
Easy integration in user’s facilities.
GeneSystems© hosts a number of versatile and easy-to-use tools for analyzing data from massive sequencing, visualization and interpretation of results. It offers a complete and personalized service, adaptable to needs.
This platform, developed entirely in a cloud computing environment with advanced bioinformatic algorithms of Sistemas Genómicos, allows high availability and scalability of data, minimizing the consumption of the user’s own resources.
The platform is adapted to solve the needs during the analysis process, from the analysis of the results from sequencing to the preparation of the final report. Its intuitive and optimized interface for the data generated from the sequencing of the libraries processed with NIPT-GeneSGKit® Advanced is designed to be managed without bioinformatics knowledge.
Specifications
| Certification |
The manufacturing of the kits and bioinformatics analysis is certified by ISO13485 and CE-IVD marked. |
| References |
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| Sequencing platforms |
Illumina® and MGI |
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