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01-04-2013 | Review

Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories

Author: Lee-Jun C. Wong

Published in: Neurotherapeutics | Issue 2/2013

Abstract

Molecular diagnosis of complex dual genome mitochondrial disorders is a challenge. It requires the identification of deleterious mutations in one of the ~1,500 nuclear genes and the mitochondrial genome. If the molecular defect is in the mitochondrial genome, quantification of degree of mutation load (heteroplasmy) in affected tissues is important. Due to the extreme clinical and genetic heterogeneity, conventional sequence analysis of the candidate genes one-by-one is impractical, if not impossible. The newly developed massively parallel next generation sequencing (NGS) technique, that allows simultaneous sequence analysis of multiple target genes, when appropriately validated with deep coverage and proper quality controls, can be used as an effective comprehensive diagnostic approach in CLIA certified clinical laboratories.

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Title: Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories
Author: Lee-Jun C. Wong
Publication date: 01-04-2013
Publisher: Springer-Verlag
Published in: Neurotherapeutics / Issue 2/2013
Print ISSN: 1933-7213
Electronic ISSN: 1878-7479
DOI: https://doi.org/10.1007/s13311-012-0170-5

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Challenges of Bringing Next Generation Sequencing Technologies to Clinical Molecular Diagnostic Laboratories

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