Open Frame Sequencing based on NGS technique allows identification of over 90% of all known and described mutations, testing of coding sequences of 81% of all known genes and 93% of all exons in a human genome. This is the widest range of all offers available on the market. What makes the personalized genetic platform Open Frame Sequencing™ so special?
- Flexibility – you can individually determine type of the test, whether you want to examine one or more germinal mutations, one or more exons, one or more genes
- Open approach – you can individually specifythe scope of testing: select from 15,189 genes, and more than 163,000 mutations or 331,130 exons.
- Personalization –precise matching of the diagnostics to the needs of an individual Patient and costoptimization. Price of the test is determined solely for the selected test range.
One of the other available solutions isa standard expensive test of, for example, more than 4000 genes. It often turns out that in reality only information about4–5 genes is used as the scope of interpretation has been limited based on additional clinical information. A better solution is to determine real patient’s needs at the very beginning, prepare a personalized scope of testing and then order tests based on the defined scope. This approach would also reducecosts of such diagnostic tests.
Open Frame Sequencing™ is a simple diagnostic tool. The process starts with determination of indications for diagnostics, e.g. a genetic disease suspected based on theobservedphenotypic traits. Then, it is necessary to search for genes the mutations of which maybe responsible for theobservedsymptoms. There are various gene databases available online (such as OMIM, ClinVar) that can be used tosearch for genes based on clinical symptoms. The next step is checking whether a test for the identified gene(s) is available withthe Open Frame™ Gene Search Engine available at www.invictagenetics.com/genes . All you need to do is enter the name of a gene using the HGNC terminology into a search field marked. The search engine prompts names of the genes. You can search for 5 genes at the same time using the Open Frame™ search engine.
The Open Frame search engine provides information on the compatibility of genes with Open Frame Sequencing. If a given gene is compatible you can order a collection kit, collect a sample as per enclosed instructions and send it back to the INVICTA Genetic Laboratory. If a given gene is not compatible with the Open Frame Sequencing platform you can contact the INVICTA Genetic Laboratory to determine whether a test is possible.
Open Frame Sequencing is the newest diagnostic tool at the INVICTA Genetic Laboratory. This personalized platform, the only one in Poland, facilitates and accelerates a diagnostic process for Patients looking for answers to questions about their genetic status. Thanks to a wide scope of available tests it is possible to find answers even in cases of Patients who have not been tested so far due to lack of an appropriate offer for genetic testing.