Genomic Unity® Mitochondrial Genome Deletions Analysis
Use
The Genomic Unity® Mitochondrial Deletions Analysis is designed to identify large mitochondrial deletions that cause mitochondrial disorders. This targeted test employs a whole genome platform to detect all major clinically relevant variant types from a single sample. It specifically focuses on analyzing large deletions in the mitochondrial genome to aid in diagnosing mitochondrial disorders, which are conditions affecting multiple organ systems due to issues in energy metabolism.
Special Instructions
Not provided.
Limitations
The test uses a PCR-free whole genome sequencing platform but may have limitations related to the detection of small insertions, deletions, or other variant types not covered by deletion analysis. Furthermore, although the deletion detection sensitivity is 96%, there might be cases where clinically relevant deletions are not identified due to their size or location.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Refer to provided specimen requirements link for details.