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The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era Cover

The switch in the diagnosis of mitochondrial diseases from the classical ‘function first’ to the NGS-based ‘genetics first’ diagnostic era

Journal of Mother and Child
Volume 24 (2020): Issue 2 (June 2020)
By: Wolfgang Sperl,  Saskia Wortmann,  René G. Feichtinger and  Johannes A. Mayr  
Open Access
|Oct 2020

Figures & Tables

Figure 1

Switch from the classical diagnostic approach ‘function first’ to NGS-based ‘genetics first’
Switch from the classical diagnostic approach ‘function first’ to NGS-based ‘genetics first’

Figure 2

A functional investigation by substrate oxidation analysis of fresh muscle biopsies reveals defects of (A) the pyruvate oxidation route and (B) ATP synthesis
A functional investigation by substrate oxidation analysis of fresh muscle biopsies reveals defects of (A) the pyruvate oxidation route and (B) ATP synthesis

Figure 3

Diagnostic approach (flow chart) in the ‘genetics first’ era
Diagnostic approach (flow chart) in the ‘genetics first’ era

Figure 4

Timeline of the cumulative number of mitochondrial disease gene versus the year of the first report. (A) classical approach 1988–2009 and (B) genetics first approach 2010–2020 (March)
Timeline of the cumulative number of mitochondrial disease gene versus the year of the first report. (A) classical approach 1988–2009 and (B) genetics first approach 2010–2020 (March)

Figure 5

Clinical, genetic and functional competence with the interface between diagnostic and research are a prerequisite of diagnostic centres using the ‘genetics first’ approach
Clinical, genetic and functional competence with the interface between diagnostic and research are a prerequisite of diagnostic centres using the ‘genetics first’ approach
DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2005.000008 | Journal eISSN: 2719-535X | Journal ISSN: 2719-6488
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Language: English
Page range: 47 - 52
Published on: Oct 2, 2020
Published by: Institute of Mother and Child
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
mitochondrial diseases,
OXPHOS,
paediatrics,
diagnostics,
next generation sequencing,
exome sequencing,
whole genome sequencing,
mitochondrial DNA,
diagnostic centres
Related subjects:
Medicine,
Clinical medicine,
Pediatrics and juvenile medicine,
Paediatric haematology and oncology,
Public health

© 2020 Wolfgang Sperl, Saskia Wortmann, René G. Feichtinger, Johannes A. Mayr, published by Institute of Mother and Child
This work is licensed under the Creative Commons Attribution 4.0 License.

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