Tests categories

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.

A blood test that measures hydrochlorothiazide levels, used in monitoring diuretic therapy.

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 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 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.

Molecular karyotype by aCGH is an advanced genetic test thatóry identifies uncompensated chromosomal abnormalities associated with birth defects. It utilizes a porónary genomic hybridization with microarray (aCGH) method for accurate karyotype analysis.