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® Whole Genome Analysis, if targeted testing is non-diagnostic.

This test can also be ordered to pair analysis of the mitochondrial genome with Genomic Unity® Exome Analysis due to shared clinical symptoms with mitochondrial disorders.

Included Analyses

  • Mitochondrial genome sequence analysis with heteroplasmy (≥5%)
  • Mitochondrial genome large deletion analysis

Optionally includes:

Test Performance

 %
Sensitivity for SNVs
 %
Specificity for SNVs
 %
Positive predictive value for SNVs

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

Variantyx Blood

Blood

5ml

Variantyx Saliva

Saliva

2ml

Variantyx DNA

gDNA

5μg

Turn Around Time

A report will be issued within 10-12 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

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