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  • Alfa – 1 Antitrypsin deficiency (determination of mutations PIZ and PIS in the gene SERPINA1)

    Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. COPD can be caused by alpha-1 antitrypsin deficiency. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma. Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Most common mutations are PIZ and PIS (

    • Organisational Unit: Scientific Laboratory of Molecular Genetics - Latvia, Rīga
    • Price: Contract price

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