Custom Assays

Development of customized solutions for targeted DNA sequencing.
Intended use:
assays for targeted DNA sequencing for Illumina and Ion Torrent platforms.
You order a panel for detection of genetic markers of one or several diseases; we jointly draw up a list of regions for analysis: for example, in accordance with the nature of the disease, it can be whole genes, exons, introns, splicing sites, hot spots and it's combinations.
Since the development
of some diseases contribute
to the complex genetic variants (i. e. large deletions, inversions, number of copies variations), it is possible
to establish a method
to determine such mutations
as well.
We collect genetic variants for the determined target regions from public and private databases, variants are automatically annotated, and then the curator check the most significant of them manually. As a result an annotated database is ready, which is used for further panel design and sequencing data analysis.
Panel design
We design a panel for two DNA chains, test it, create specifications and user manuals. Provide access to software for data analysis, train users how to operate the test-system.
Data analysis
Sequencing results are loaded in the VariFind™ application, which processes the data, finds and annotates genetic variants in targeted regions, using database created in the second stage. Variants of interest can be included in the PDF-report that can be saved or printed.
Application for data analysis
VariFind™ Software is an application for genomic data processing and analysis. The app allows to download sequencing data and to analyze annotated genetic variants using information from its own databases and external sources, including specialized databases of genes or diseases.

It is convenient to operate annotations, there is a possibility of incorporating options of interest in the PDF-report. It's important to note that the database is supervised by our specialist and is constantly updated.
Infrastructure for data storage
VariFind™ Software application uses cloud to store the data. If it's important to store the data locally, you can purchase Genome Server™ — a hardware-software complex, designed for long-term storage and analysis of genomic data. The necessary tools for working with the test-system are pre-installed, but if additional tasks occurs, the functionality can be extended.
VariFindТМ Neoscreen assay

MPS-based assay for detection of mutations in CFTR, PAH and GALT genes, associated with cystic fibrosis, phenylketonuria and galactosemia.
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Diagnostic panel for thyroid cancer
We have designed a diagnostic panel for determent of the 456 somatic mutations in 25 genes for Premed Scientific clinical centre. This panel will allow not only to distinguish thyroid cancer from thyroid adenoma, but also to determine the subtype of cancer, which is important for the effective treatment and prognosis.
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VariFind™ IVF-CS assay
MPS-based assay for genetic carrier screening in egg and sperm donors and couples planning a pregnancy. Designed for detection of clinically significant mutations, associated with 17 severe genetic disorders. Includes reagents for targeted sequencing and software for data analysis.
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VariFind™ AIP assay
Panel for genetic diagnostics of autoinflammatory deseases, such as periodic fever fever, psoriasis, osteomyelitus and conditions associated
with deficiency of immune system factors.
More than 1000 variants in 12 genes are analyzed
in the panel. The panel is verified and will be validated
in three independent European laboratories.
Order the assay
Please send a request with detailed description of your project, we'll answer you in three days!
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