Mitochondrial Disorders Panel (mtDNA and Nuclear Genes)
Also known as: MITO PAN
Use
The Mitochondrial Disorders Panel is used to confirm a suspected diagnosis of a mitochondrial disorder caused by sequence variants in the mitochondrial genome (mtDNA) or related nuclear genes. This test is not suitable for disorders commonly caused by large deletions in the mtDNA, such as chronic progressive external ophthalmoplegia (CPEO), Kearns-Sayre syndrome (KSS), and Pearson syndrome. The panel is performed using massively parallel sequencing, allowing for a comprehensive analysis of relevant genes associated with mitochondrial disorders.
Special Instructions
The test is not performed at ARUP but at GeneDx, thus requiring separate specimens when multiple tests are ordered. Clinical indications for ordering the test, along with ICD-10 codes, are mandatory for submission.
Limitations
The test does not exclude a genetic basis for the proband's clinical features and may miss pathogenic variants present in nuclear genes not covered by the panel. Additionally, the sensitivity for detecting large-scale mtDNA deletions at low levels of heteroplasmy is reduced. The resolution may be insufficient for certain repetitive regions, and testing may not detect low-level mosaicism or small indels (deletions or insertions).
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 11526-1
- 40995-3
- 11526-1
- 40995-3
Result Turnaround Time
36-42 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL
Minimum Volume
2 mL
Container
Lavender (K2 or K3EDTA) tube
Storage Instructions
Refrigerated
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 24 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |