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The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory
Joint Authors
Yilmaz, Mustafa
Altıntaş, Derya Ufuk
Yalcin, Arzu D.
Boga, Ibrahim
Bingol, Gulbin
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-05-16
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Introduction.
Primary immune deficiency disorders (PIDs) are a group of diseases with profound defects in immune cells.
The traditional diagnostics have evolved from clinical evaluation, flow cytometry, western blotting, and Sanger sequencing to focusing on small groups of genes.
However, this is not sufficient to confirm the suspicion of certain PIDs.
Our innovative approach to diagnostics outlines the algorithm for PIDs and the clinical utility of immunophenotyping with a custom-designed multigene panel.
Materials and Methods.
We have designed a diagnostic algorithm based on flow cytometry studies to classify the patients; then the selected multigene panel was sequenced.
In silico analysis for mutations was carried out using SIFT, Polyphen-2, and MutationTaster.
Results and Discussion.
The causative mutation was identified in 46% of PIDs.
Based on these results, this new algorithm including immune phenotyping and NGS for PIDs was suggested for the clinical use.
Conclusions.
This study provides a thorough validation of diagnostic algorithm and indicates that still the traditional methods can be used to collect significant information related to design of most current diagnostics.
The benefits of such testing are for diagnosis and prevention including the prenatal and preimplantation diagnosis, prognosis, treatment, and research.
American Psychological Association (APA)
Yalcin, Arzu D.& Boga, Ibrahim& Yilmaz, Mustafa& Bingol, Gulbin& Altıntaş, Derya Ufuk. 2018. The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory. BioMed Research International،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1129943
Modern Language Association (MLA)
Yalcin, Arzu D.…[et al.]. The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory. BioMed Research International No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1129943
American Medical Association (AMA)
Yalcin, Arzu D.& Boga, Ibrahim& Yilmaz, Mustafa& Bingol, Gulbin& Altıntaş, Derya Ufuk. The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1129943
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1129943