Synevo

Genetic testing involves detecting a gene variant in one of the coagulation factors, R2 of factor V, associated with increased blood clotting, and allows the risk of venous thrombosis to be assessed.

Genetic testing for hereditary deafness (DFNB1) by analyzing the complete coding sequence of the GJB2 gene allows identification of genetic causes of hearing loss.

A blood test that measures the level of the enzyme hexokinase, important for glucose metabolism.

The molecular test analyzes the entire coding region of the ATP7B gene for mutations, allowing for a complete and detailed genetic diagnosis of Wilson's disease, a rare genetic disorder associated with excessive copper accumulation in the body.

The molecular test detects the listed most common mutations in the ATP7B gene, as well as other mutations in an area of the gene called exon 8, enabling rapid confirmation of Wilson's disease, a rare genetic disease.

A molecular test that detects the presence of mutations in specific coding regions of the ATP7B gene, whichóre used in the second stage of diagnosing Wilson's disease, a rare genetic disorder associated with excessive accumulation of copper in the body.

A molecular test that detects the presence of mutations in specific coding regions of the ATP7B gene, whichóre used in the first stage of diagnosing Wilson's disease, a rare genetic disorder associated with excessive copper accumulation in the body.

A molecular test that detects the presence of mutations in specific coding regions of the ATP7B gene, whichóre used in the third stage of diagnosing Wilson's disease, a rare genetic disorder associated with excessive copper accumulation in the body.

The study involves the analysis of genetic material on a stretch of DNA identified as exon 4 of the NOTCH3 gene, associated with an inherited vascular and cerebrovascular disease known as CADASIL syndrome, as a first step in diagnosing the disease.