Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis
Use
The Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis is designed to identify nuclear variants that cause mitochondrial disorders. It utilizes a whole genome platform, focusing on 336 nuclear genes associated with mitochondrial disorders. The test provides a comprehensive analysis by replacing multiple previous tests, including targeted gene panels and single gene analyses, which is critical for patients presenting with symptoms affecting multiple organ systems suggestive of mitochondrial disorders.
Special Instructions
Not provided.
Limitations
This test does not fully cover the NDUFB11, PRODH, and SLC6A8 genes, which may result in undetected pathogenic variants. Additionally, certain regions within the PRODH and TMLHE genes are non-unique, affecting variant assignment accuracy and interpretation. These gaps can limit the test's efficacy in providing a complete molecular diagnosis in regions of interest.
Methodology
NGS (Whole Genome Sequencing)
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