PGmito - Mitochondrial Genome Sequencing
Use
This test is intended for individuals with relevant features who have a clinical or suspected diagnosis of a mitochondrial disorder. It is also suitable for individuals with oxidative phosphorylation defects and/or lactic acidosis, providing a comprehensive analysis by sequencing the entire mitochondrial genome to identify potential mutations.
Special Instructions
This test utilizes Long Range PCR and NGS methodologies to provide a thorough examination of the mitochondrial genome. Ensure that specimens are collected properly as outlined. The test supports both individual and family-based testing approaches, and additional targeted family testing is available for further analysis.
Limitations
While the test covers the entire mitochondrial genome, it may not detect all mutations, such as those with very low heteroplasmy levels or those outside the covered regions. Variants identified are subject to current knowledge bases and may require further verification or reclassification as research progresses.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
3-4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided