Mitochondrial Genome Sequencing
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Mitochondrial disorders are caused due to mutations in either Mitochondrial DNA or nuclear DNA
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Mitochondrial Genome Sequencing analyzes mutations in Mitochondrial DNA
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Nuclear mitochondrial DNA mutations are analyzed via ORION
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Testing for mutations in the mitochondrial DNA
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Does not include analysis of nuclear mitochondrial genes
Indications:
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Suspected Mitochondrial Disorders
Analysis and Reporting:
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Pathogenic and Likely Pathogenic variants reported in the MITOMAP database
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Heteroplasmy levels are an approximate estimate
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Testing validated on blood and extracted whole blood DNA
Note: Prenatal testing is not available for Mitochondrial DNA mutations. Only nuclear mitochondrial mutations can be analyzed on prenatal samples.
Acceptable Samples:
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Whole Blood EDTA
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Extracted DNA
Certified & Accredited
Accreditations
9007683
34D2205781