A Post-hoc Analysis on the Implementation of a Targeted Resequencing Panel for the Diagnosis of Dystonia

Lugtenberg, C. (Coen) (2015) A Post-hoc Analysis on the Implementation of a Targeted Resequencing Panel for the Diagnosis of Dystonia. thesis, Medicine.

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Abstract

Purpose: Recent studies show that Next-Generation Sequencing (NGS) techniques such as targeted resequencing (TRS), can be effective in heterogeneous conditions, increasing the diagnostic yield at lower costs. It is not clear yet whether this also applies for dystonia. Therefore, this study aims to investigate whether dystonia patients benefit from the use of TRS. Methods: In this post-hoc analysis, 61 dystonia patients were included whose DNA was analysed by TRS of 96 dystonia associated genes. To compare the diagnostic work-up with and without TRS, we generated a fictional control group based on a clinical description of each individual patient of our study group. For each case description, two independent experts in the field reported their theoretical diagnostic strategy, using only conventional genetic techniques. The primary outcome measure was the diagnostic yield, secondary outcome measures were the financial costs and duration of the diagnostic workup. Results: In the study group, TRS led to a confirmed genetic diagnosis in 9/61 patients (14,8%) versus 9/122 (7,4%) in the control group (P 0,096). In a subanalysis excluding those cases where a causative PRRT2 mutation was suspected, the diagnostic yield was 6/52 (11,5%) in the study group and 3/104 (2,9%) in the control group (P 0.038). Conclusion: This study shows that the use of TRS for dystonia significantly increases the diagnostic yield compared to the conventional diagnostic work-up provided that those cases are excluded where a causative PRRT2 mutation is suspected.

Item Type:	Thesis (Thesis)
Supervisor name:	Facility Supervisor: and Koning-Tijssen, M.A.J. de
Supervisor name:	Daily Supervision: and Egmond, M.E. van and Koning, T.J. de and UMC Groningen, the Netherlands
Faculty:	Medical Sciences
Date Deposited:	25 Jun 2020 10:41
Last Modified:	25 Jun 2020 10:41
URI:	https://umcg.studenttheses.ub.rug.nl/id/eprint/304

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