News

GHC Genetics now offers non-invasive prenatal testing (NIPT)

GHC Genetics is now offering for pregnant women the non-invasive prenatal test (NIPT). This test detects the risk of chromosomal defects such as Down's, Patau's and Edwards syndromes with an accuracy greater than 99%. The test can be performed from the 9th week of pregnancy and the sample for analysis is obtained by venous blood collection in our outpatient clinic.

Because some of the fetus's genetic information (DNA) is released into the blood via the placenta, it is possible to reliably identify chromosomal abnormalities from the blood sample taken. This is a gentle and reliable way to obtain key information about your baby's genetic health.

The first year of the Health Prevention Conference in Pardubice

On Tuesday, 21 May, the first year of the Prevention of Health Conference took place in Pardubice, organised by our sister company PRENET together with other institutions. The main purpose of the conference was to present the current possibilities and availability of preventive healthcare. Comprehensive prevention and early diagnosis are key to reducing the costs and increasing the success rate of treatment thus improving the health status of the Czech population, which has a major impact on the efficiency of the healthcare delivery system and is crucial for the economic development of the state and business.

After 25 years, the cause of a rare genetic neurological disease has finally been discovered

Spinocerebellar ataxia type 4 (SCA4) is a sporadic syndrome. Symptoms include muscle weakness, difficulty coordinating body movements, which causes a particularly jerky and unsteady gait, and difficulty speaking. The disease has long been known to have a genetic cause. As early as 1996, a link to chromosome 16q was found, but the mutation causing SCA4 remained unknown until now. Using the long single-stranded whole genome sequencing (LR-GS) method, which searched 6 495 genome sequence datasets, scientists finally discovered that a mutation in the ZFHX3 gene was responsible for the disease.

Our genotype can influence the likelihood of contracting tick-borne encephalitis

The location of the tick does not determine whether someone gets encephalitis. It's different with genes. There is a slight confusion in the DNA that contributes to an increased risk of infection, but also a higher likelihood that the course of "tick-borne" disease will be severe.

A general condition, an encounter with an infected tick, or the ability of the virus to cause disease. These are examples of what influences whether someone gets tick-borne encephalitis. It also includes our genetic makeup. European scientists, including those in the Czech Republic, have found and documented a change in DNA that contributes to the outbreak of the disease.

There is one particular DNA substitution that, once you have it, predisposes you to be more likely to be susceptible to tick-borne encephalitis. Moreover, if you do get it, it is more likely to be more severe, says virologist Daniel Růžek, who works at the Biological Centre of the Academy of Sciences, Masaryk University or the Research Institute of Veterinary Medicine.