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doi:10.22028/D291-37469
Title: | Diagnosing Alpha-1-Antitrypsin Deficiency Using A PCR/Luminescence-Based Technology |
Author(s): | Veith, Martina Klemmer, Andreas Anton, Iker El Hamss, Rachid Rapun, Noelia Janciauskiene, Sabina Kotke, Viktor Herr, Christian Bals, Robert Vogelmeier, Claus Franz Greulich, Timm |
Language: | English |
Title: | International Journal of Chronic Obstructive Pulmonary Disease |
Volume: | 2019 |
Issue: | 14 |
Pages: | 2535-2542 |
Publisher/Platform: | DOVE |
Year of Publication: | 2019 |
Free key words: | SERPINA1 diagnosis Luminex xMAP technology mutations |
DDC notations: | 610 Medicine and health |
Publikation type: | Journal Article |
Abstract: | Purpose: Alpha-1-antitrypsin deficiency (AATD) is a rare hereditary condition resulting from the mutations in the SERPINA1 (serine protease inhibitor) gene and is characterized by low circulating levels of the alpha-1 antitrypsin (AAT) protein. The traditional algorithm for laboratory testing of AATD involves the analysis of AAT concentrations (nephelometry), phenotyping (isoelectric focusing, IEF), and genotyping (polymerase chain reaction, PCR); in selected cases, full sequencing of the SERPINA1 gene can be undertaken. New technologies arise that may make diagnosis easier and faster. Methods: We developed and evaluated a new diagnostic algorithm based on Luminex xMAP (multi-analyte profiling) technology using Progenika A1AT Genotyping Test. In an initial learning phase, 1979 samples from individuals suspected of having AATD were examined by both, a traditional and a “new” algorithm. In a second phase, 1133 samples were analyzed with the Luminex xMAP only. Results: By introducing a Luminex xMAP based algorithm, we were able to simultaneously identify 14 mutations in SERPINA1 gene (instead of two- S and Z-by using our old algorithm). Although the quantity of IEF assays remained unchanged, the nephelometric measurements and sequencing were reduced by 79% and 63.4%, respectively. Conclusion: The new method is convenient, fast and user-friendly. The application of the Luminex xMAP technology can simplify and shorten the diagnostic workup of patients with suspected AATD. |
DOI of the first publication: | 10.2147/COPD.S224221 |
URL of the first publication: | https://www.dovepress.com/diagnosing-alpha-1-antitrypsin-deficiency-using-a-pcrluminescence-base-peer-reviewed-fulltext-article-COPD |
Link to this record: | urn:nbn:de:bsz:291--ds-374691 hdl:20.500.11880/33884 http://dx.doi.org/10.22028/D291-37469 |
ISSN: | 1178-2005 |
Date of registration: | 30-Sep-2022 |
Faculty: | M - Medizinische Fakultät |
Department: | M - Innere Medizin |
Professorship: | M - Prof. Dr. Robert Bals |
Collections: | SciDok - Der Wissenschaftsserver der Universität des Saarlandes |
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