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Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.

Authors
  • Vasta, Valeria
  • Merritt, J Lawrence 2nd
  • Saneto, Russell P
  • Hahn, Si Houn
Type
Published Article
Journal
Pediatrics international : official journal of the Japan Pediatric Society
Publication Date
Oct 01, 2012
Volume
54
Issue
5
Pages
585–601
Identifiers
DOI: 10.1111/j.1442-200X.2012.03644.x
PMID: 22494076
Source
Medline
License
Unknown

Abstract

Sequencing only nuclear genes for RCC subunits and assembly factors may not provide the diagnostic answers for suspected patients with mitochondrial disorders. The present findings indicate that the diagnostic spectrum of mitochondrial disorders is much broader than previously thought, which could potentially lead to misdiagnosis and/or inappropriate treatment. Overall analytic sensitivity and precision appear acceptable for clinical testing. Despite the limitations in finding mutations in all patients, the present findings underscore the considerable clinical benefits of targeted next-generation sequencing and serve as a prototype for extending the clinical evaluation in this clinically heterogeneous patient group.

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