Next Generation Sequencing

NGS Method

NGS PGD method (preimplantation genetic diagnosis based on next-generation sequencing platform) uses the most up-to-date techniques of human genome sequencing (reading of genetic information) for testing embryos.

It is used as part of in vitro fertilization and provides students with comprehensive information concerning embryo's DNA for chromosome abnormalities or genetic mutations. It provides physicians with a unique opportunity to help couples who are exposed to an increased risk of genetic abnormalities in the fetus.

To date, in case of appropriate indications it was possible to carry out preimplantation genetic diagnosis with the use of FISH or microarray (aCGH) techniques. Both are effective, but they have their limitations.

Test result credibility at a level of 99,999%

Next Generation Sequencing (NGS) is currently the reference method (it confirms results) for other genetic diagnostics methods (such as RT-PCR, CGH). NGS is extremely sensitive test, which allows to identify a number of genetic modifications. Owning to this revolutionary solution the credibility of the result reaches 99,999% (Q50 by Phred Quality Score). It provides access to a vast amount of data, which in turn enables to determine patient condition more effectively and customize further treatment to his needs.

Ion PGM System NGS

With Next Generations Sequencing the coding sequence of each gene is read hundreds of times. In comparison, when using Sanger sequencing method, sequences are read a few times at most. At the pre-diagnostic phase, as opposed to microarray (CGH), there is no need to know precisely what kind of information is required to be detected. Next Generation Sequencing enables to analyses the entire gene. It detects not only modifications in single nucleotides, but also deletions and insertions.

Preimplantation Diagnosis with next-generation sequencing PGS-NGS 360°™ is:

• Possibility of testing all 24 chromosomes simultaneously with unprecedented accuracy - at a level of 99,999% (Q50 by Phred Quality Score)!

• Possibility of testing for a variety of monogenic diseases with known genetic base!

• Credible result
  Within PGS-NGS 360°™ each sample is assigned an additional molecular code, eliminating the possibility of error since the moment of collecting material from the embryo. In addition, the test credibility is enhanced by a direct connection of DNA reading with the obtained information. Owing to chips within semiconductor technology in the world of DNA molecule is directly reflected in the electronic signal.

• Embryo safety - reducing the number of biopsies for the diagnosis
  Usually just one embryo biopsy is sufficient to obtain a reliable result. In the case of existing methods, occasionally, the biopsy and the test had to be repeated.

• The possibility of combining the tests of chromosomes and single-gene diseases in a single test!
  Until now it was not possible to combine chromosomal aneuploidy and monogenic diseases tests. Today, due to NGS it is possible, just one embryo biopsy will suffice.

• NGS method is considered to be referential for all the other techniques
  DNA sequencing is referred to as the reference method (model for others), mainly due to the direct nature of the genetic material reading. Other methods (FISH and microarrays) use markers and light as change markers and indirectly test the genetic material. For this reason, these methods are currently being abandoned for the use of NGS.

• Lower costs of test
  The special design of the PGM apparatus allows for a significant reduction in the cost of tests in comparison with existing methods. Due to which, we increase the availability of PGD preimplantation genetic diagnosis for patients. .