Every human’s genome contains 23 chromosome pairs, which in turn hold approximately 23,000 genes. All of us inherit two copies of most genes, one from the mother and the other from the father, with the exception of the genes located on the X and Y chromosomes in men. That is why many of our characteristics resemble those of both our parents.
The information contained in the inherited genetic material in the form of DNA conditions our life, the development of diseases, our susceptibility to them as well as the way we respond to medication (pharmacogenomics), and finally our chances of having healthy offspring. Reading that information (determining the DNA sequence), which varies from one human to another, allows diagnosticians and physicians to identify defects in advance as well as decide on personalized prevention or therapy, and prepares the ground for repairing all identified alterations (mutations) in the not too distant future.
Thanks to the DNA sequencing-based diagnostics we develop, Genomed, a pioneer in using patient genome sequencing for diagnostic purposes, can boast a number of successes in this field. At the beginning of 2013, using Next Generation Sequencing (NGS) technology, Genomed diagnosticians and scientists identified mutations responsible for a rare disease called limb-girdle muscular dystrophy, which can be caused by alterations in approximately 20 genes. Determining the disease’s genetic basis makes possible avoiding further, painful diagnostics, selecting a suitable physiotherapy, diet and, in the future, a targeted therapy.
In the Polish market, Genomed is the only company whose staff and technological base make possible processing orders involving Next Generation Sequencing (NGS), including human genome analysis, and the subsequent reading. With respect to its innovative character, the service, a permanent addition to the company’s offer, considerably exceeds what is offered by other firms operating in the field of molecular biology.
Since 2022 we have been offering Whole Genome Sequencing with diagnostic analysis and a detailed report, covering:
- interpretative analysis of all identified pathogenic or likely pathogenic variants in 5000 genes associated with genetic diseases and their potential risk for patient's health and the health of her/his children)
- pharmacogenomic variants and personal drug (medication) responses
- nutrigenomic report with dietary recommendations
at 12,500 PLN.
Should you be interested in ordering a test, please contact us by email, genom23@genomed.pl, or phone, +48 22 644 60 19, to make an appointment with our medical geneticist with the aim of conducting an interview.