ArticleJournal of clinical laboratory analysis2020
Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.
Article in Journal of clinical laboratory analysis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 28 citations in OpenAlex.
- Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review.Orphanet journal of rare diseases · 2024Pooled it
- Diagnosis and treatment of lung disease associated with alpha one-antitrypsin deficiency: A position statement from the Thoracic Society of Australia and New Zealand.Respirology (Carlton, Vic.) · 2020Guideline
- Evaluating Alpha-1 Antitrypsin Deficiency testing across Europe to ensure diagnostic accuracy: an EARCO multicentre project.Respiratory research · 2026Article
- Community-BasedBiomedicines · 2026Article
- Novel mutation (MMultidisciplinary respiratory medicine · 2026Article
- Recent Advances in and Application of Fluorescent Microspheres for Multiple Nucleic Acid Detection.Biosensors · 2024Review
- Distribution of alpha1 antitrypsin rare alleles in six countries: Results from the Progenika diagnostic network.Human genomics · 2023Article
- Wilson Disease and Alpha1-Antitrypsin Deficiency: A Review of Non-Invasive Diagnostic Tests.Diagnostics (Basel, Switzerland) · 2023Review
- Improving the Laboratory Diagnosis of M-like Variants Related to Alpha1-Antitrypsin Deficiency.International journal of molecular sciences · 2022Article
- Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis.Respiratory research · 2022Observational
- Clinical manifestations of a new alpha-1 antitrypsin genetic variant:Respirology case reports · 2022Article
- Alpha-1 Antitrypsin Screening in a Selected Cohort of Patients Affected by Chronic Pulmonary Diseases in Naples, Italy.Journal of clinical medicine · 2021Article
- Molecular diagnosis of alpha1-antitrypsin deficiency: A new method based on Luminex technology.Journal of clinical laboratory analysis · 2020Article
- Update on and future perspectives for the diagnosis of alpha-1 antitrypsin deficiency in Brazil.Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e TisilogiaArticle
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
Abstract
backgroundAlpha1-antitrypsin deficiency (AATD) is an under-diagnosed hereditary disorder characterized by reduced serum levels of alpha1-antitrypsin (AAT) and increased risk to develop lung and liver diseases at an early age. AAT is encoded by the highly polymorphic SERPINA1 gene. The most common deficiency alleles are S and Z, but more than 150 rare variants lead to low levels of the protein. To identify these pathological allelic variants, sequencing is required. Since traditional sequencing is expensive and time-consuming, we evaluated the accuracy of A1AT Genotyping Test, a new diagnostic genotyping kit which allows to simultaneously identify and genotype 14 deficiency variants of the SERPINA1 gene based on Luminex technology.
methodsA total of 418 consecutive samples with AATD suspicion and submitted to the Italian Reference laboratory between January and April 2016 were analyzed both by applying the diagnostic algorithm currently in use, and by applying A1AT Genotyping Test.
resultsThe assay gave the following results: 101 samples (24.2%) were positive for at least one of the 14 deficiency variants, 316 (75.6%) were negative for all the variants analyzed. The identified mutations showed a 100% correlation with the results obtained with our diagnostic algorithm. Seventeen samples (4%) resulted negative for the assay but sequencing identified other rare pathological variants in SERPINA1 gene.
conclusionThe A1AT Genotyping Test assay was highly reliable and robust and allowed shorter diagnostic times. In few cases, it has been necessary to sequence the SERPINA1 gene to identify other rare mutations not included in the kit.
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