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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 (http://ghr.nlm.nih.gov).

Contacts and Location

Contact 1 Linda Piekuse
Contact 2 Linda Gabrusenoka
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Organisational Unit Rīga Stradiņš University
    Scientific Laboratory of Molecular Genetics - Latvia, Riga

Description

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 (http://ghr.nlm.nih.gov).

Specification

Sample DNA or material for DNA isolation. PIZ and PIS mutations in patients DNA is detected by bi-PASA PCR and PAGE.

Accreditation

DGKL approved EQA sertificate for analysis SERPINA1 gene mutations (www.dgkl-rfb.de).

Price information

1 sample - 17.17 (Total prices in EUR, excl. VAT)

Delivery time

Negotiable. Depends on many factors: for example, number of samples.

Service fields

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