Alpha-1-antitrypsin deficiency
Analysis ID 84
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Alpha-1-antitrypsin deficiency
OMIM 613490
Clinical information Alpha-1-antitrypsin deficiency - lack or reduced activity of antitrypsin leads to a degeneration of tissues due to an increased activity of proteolitic enzymes (tripsin, elastase). Alpha-1-antitrypsin deficiency is a hereditary autosomal recessive disorder, caused by mutations in the PI gene. Incidence of the disease in Europe and the United States is relatively high (1 per 2000 live birth). Patients with alpha-1-antitrypsin deficiency have decreased activity of this protein in blood serum, which results in damage to different organs such as lungs (repeat inflammations, pneumonia, emphysema), liver (cirrhosis). Genetic analysis of alpha-1-antitrypsin deficiency helps to avoid environmental risk factors that worsen course of the disease.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes PI (Serpin 1)
Analysis description Sequencing analysis of the coding sequence of PI (Serpin 1)
Analysis indication Symptoms of alpha-1-antitrypsin deficiency
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders