Blood

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.

The test includes the detection of 35delG and 310del14 mutations in the GJB2 gene, allows the diagnosis of genetic causes of hereditary deafness (DFNB1).

The test involves analyzing DNA from tumor cellsórecords due to the listed mutations in the KRAS gene, often found in cases of colorectal cancer, and helps predict the course of the disease and response to drugs.

The study analyzes exons 2, 3, 5, 6, and 11 of a gene associated with an inherited vascular and cerebrovascular disease called CADASIL syndrome, as a second step in diagnosing the disease.

The study analyzes exonsó7-10 of the NOTCH3 gene as the third step in the diagnosis of a hereditary vascularófatal disease called CADASIL syndrome

The study is identifying the form of the APOE gene responsible for the genetic predisposition to Alzheimer's disease and atherosclerotic diseases

The test allows determination of the concentration of the drug everolimus in the blood, which is used in monitoring anti-cancer therapy.

The test detects a gene mutation thatóra causes factor XIII clotting deficiency, a rare inherited blood clotting disorder in which factor XIII, a protein in the blood responsible for stabilizing the clot, malfunctions or is present in insufficient amounts.

The test, which detects point mutations in the DMD gene, or certain changes in the genetic material (DNA), aims to diagnose Duchenne muscular dystrophy, an inherited disease associated with muscle weakness.

The genetic screening test detects a version of one of the genesów (called the B*57:01 allele) thatóra associated with hypersensitivity to the drug abacavir, in order to select a treatment strategy.