9337. Genetics. Gilbert syndrome (gene UGT1A1)
Description
Gilbert's syndrome is an inherited liver disease. In patients, as a result of a malfunction in the metabolism of bilirubin, jaundice periodically appears, symptoms of a malfunction of the nervous system.
The development of the disease is associated with pathological changes in the UGT1A1 gene. Their detection allows confirming the diagnosis in patients with clinical symptoms of Gilbert's syndrome, determining the risk of developing a manifest form of this disease in clinically healthy people, and foreseeing the possibility of hepatotoxic effects of drugs.
When and who needs the test?
- suspicion of Gilbert's syndrome;
- differential diagnosis of Gilbert's syndrome and other diseases manifested by hyperbilirubinemia;
- assessment of the risk of complications during therapy with irinotecan (antineoplastic drug);
- mild non-infectious jaundice;
- chronic jaundice, stopped by barbiturates;
- burdened family history (non-infectious jaundice, hyperbilirubinemia);
- clinical and / or laboratory signs of Gilbert's syndrome;
- planning therapy with drugs that have hepatotoxic properties.
Biological material
- Venous blood
Preparing for a blood test
In order to exclude factors that may affect the test results, we recommend to follow the preparation rules:
- an important condition for laboratory tests is to take blood on an empty stomach.
- 6-12 hours before the test, you should avoid eating, drinking alcohol, smoking, and limit physical activity. Drinking...