Mitochondrial Disorders Panel (Nuclear Genes Only)
Use
This test is intended for individuals with features suggestive of mitochondrial disorders, particularly those who have a confirmed or suspected diagnosis. It is also suitable for patients with oxidative phosphorylation defects, which may have been identified through biochemical testing. Elevated lactic acid levels in blood or cerebrospinal fluid may also suggest mitochondrial dysfunction and indicate the need for testing.
Special Instructions
This test is performed on either the Exome or Genome platform, depending on the specimen. Blood, DNA, Buccal, Saliva, and Tissue samples are valid for the Exome platform, while Blood and DNA are applicable for the Genome platform. STAT testing is available with a turnaround time of 7 to 16 days.
Limitations
The test is limited to nuclear genes associated with mitochondrial disorders and may not detect all mutations or deletions. False negatives can occur due to technical limitations such as low variant coverage or regions of high homology. The test is not intended to replace biochemical assays and should be interpreted in the context of clinical findings.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided