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Mitochondrial Disorders pp 301–312Cite as

Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders

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Part of the book series: Methods in Molecular Biology ((MIMB,volume 837))

Abstract

Array comparative genomic hybridization (aCGH) is a powerful clinical diagnostic tool that can be used to evaluate copy number changes in the genome. Targeted aCGH provides a much higher resolution in targeted gene regions to detect copy number changes within single gene or single exon. A custom-designed oligonucleotide aCGH platform (MitoMet®) has been developed to provide tiled coverage of the entire 16.6-kb mitochondrial genome and high-density coverage of a set of nuclear genes associated with metabolic and mitochondrial related disorders, for quick evaluation of copy number changes in both genomes (1). The high-density probes in mitochondrial genome on the MitoMet® array allow estimation of mtDNA deletion breakpoints and deletion heteroplasmy (2). This technology is particularly useful as a complementary diagnostic test to detect large deletions in genes related to mitochondrial disorders.

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Author information

Authors and Affiliations

  1. Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Jing Wang

  2. Mitochondrial Diagnostic Laboratory, Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA

    Mrudula Rakhade

Authors
  1. Jing Wang
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  2. Mrudula Rakhade
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Correspondence to Jing Wang .

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Editors and Affiliations

  1. , Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, 77030, Texas, USA

    Lee-Jun C. Wong, Ph.D.

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Wang, J., Rakhade, M. (2012). Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders. In: Wong, Ph.D., LJ. (eds) Mitochondrial Disorders. Methods in Molecular Biology, vol 837. Humana Press. https://doi.org/10.1007/978-1-61779-504-6_20

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  • DOI: https://doi.org/10.1007/978-1-61779-504-6_20

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  • Publisher Name: Humana Press

  • Print ISBN: 978-1-61779-503-9

  • Online ISBN: 978-1-61779-504-6

  • eBook Packages: Springer Protocols

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