Genomic Unity® Mitochondrial Genome Analysis
Test Description
Test Code – CP003
Mitochondrial disorders are a clinically diverse group of genetic conditions that affect the function of the mitochondria, the main source of energy for cells throughout the body. Multiple organ systems are typically affected in mitochondrial disorders, particularly the brain, skeletal and heart muscle, kidneys, and the endocrine system. These systems require large amounts of energy and tend to have the most mitochondria per cell. Mitochondrial disorders are hard to diagnose as they can affect each individual differently, leading to different symptoms from person to person.
Genomic Unity® Mitochondrial Genome Analysis is an effective test for identifying variants within the mitochondrial genome.
When to order
Order when clinical symptoms are consistent with or suggestive of a mitochondrial disorder. You also have the option to reflex to Genomic Unity® Exome Analysis or Genomic Unity® Exome Plus Analysis if targeted testing is non-diagnostic.
Included Analyses
- Mitochondrial genome sequence analysis with heteroplasmy (≥5%)
- Mitochondrial genome large deletion analysis
Optionally includes:
Test Performance
Disorders
This test covers many disorders including:
- Generalized epilepsies
- Leigh syndrome
- Neurogenic Weakness with Ataxia and Retinitis Pigmentosa (NARP)
- Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-like Episodes (MELAS)
- Myoclonic Epilepsy with Ragged-Red Fibers (MERRF)
- Hereditary Optic Neuropathy (LHON)
- Kearns-Sayre syndrome
- Pearson syndrome
- Progressive External Ophthalmoplegia (PEO)
CPT Codes
81460, 81465
The CPT codes provided are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
Accepted Specimens
Blood
5ml
Saliva
2ml
gDNA
5μg
Turnaround Time
A report will be issued within 10-12 weeks from receipt of required samples.
