TAT: 30 working days
Mitochondrial Genome Sequencing
- Mitochondrial disorders are caused due to mutations in either Mitochondrial DNA or nuclear DNA
- Mitochondrial Genome Sequencing analyzes mutations in Mitochondrial DNA
- Nuclear mitochondrial DNA mutations are analyzed via ORION
- Testing for mutations in the mitochondrial DNA
- Does not include analysis of nuclear mitochondrial genes
Indications:
- Suspected Mitochondrial Disorders
Analysis and Reporting:
- Pathogenic and Likely Pathogenic variants reported in the MITOMAP database
- Heteroplasmy levels are an approximate estimate
- 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:
- Whole Blood EDTA
- Extracted DNA