Related Experiment Video
Updated: Feb 9, 2026

Use of a Psychophysiological Script-driven Imagery Experiment to Study Trauma-related Dissociation in Borderline Personality Disorder
Published on: March 8, 2018
The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical
Atil Bisgin1,2, Ibrahim Boga2, Mustafa Yilmaz3
1Medical Genetics Department, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana, Turkey.
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.
Related Concept Videos
Pericarditis II: Clinical Features and Diagnostic Tests
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Myocarditis II: Clinical Features and Diagnostic Tests
Next-generation Sequencing
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
Diagnostic and Statistical Manual of Mental Disorders (DSM)

