Research Paper on Molecular diagnosis of alpha-1-antitrypsin deficiency in clinical practice

Description

Title: Molecular diagnosis of alpha-1-antitrypsin deficiency in clinical practice

Abstract: Alpha-1-antitrypsin (AATD) deficiency is a genetic defect that raises the possibility of developing lung and liver diseases. AATD is a serine protease inhibitor. According to the findings of recent epidemiological studies, the vast majority of people who have alpha-1-antitrypsin deficiency are still undiagnosed. The combination of quantitative and qualitative techniques forms the foundation of the full laboratory diagnosis of AATD. The first test that is always carried out on patients who have a clinical suspicion is the measurement of plasma/serum AAT concentration. However, only the identification of the AAT genotype or phenotype permits the full medical verification of the diagnosis. Isoelectric focusing, real-time PCR, and restriction fragment-length polymorphism PCR (RFLP-PCR) are “considered the most effective” and are used the most frequently among the various techniques of either AAT variant phenotyping or genotyping accepted by reference medical centers worldwide. In Poland, the routine clinical use of AAT diagnostics is still pending. The purpose of the current review is to briefly describe the main AATD diagnosis techniques and to discuss them in detail, paying particular attention to any potential advantages and disadvantages.

Keywords: alpha-1-antitrypsin, deficiency, molecular diagnostics, phenotyping, genotyping, diagnostic algorithm

Paper Quality: SCOPUS / Web of Science Level Research Paper

Subject: Advances in Respiratory Medicine

Writer Experience: 20+ Years

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