Genomic Unity® Comprehensive Mitochondrial Disorders Analysis

Test Description

Test Code – MD001

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® Comprehensive Mitochondrial Disorders Analysis uses a whole genome sequencing platform to diagnose mitochondrial disorders in 335 nuclear genes and the entire mitochondrial genome.

When to order

Order this test when a person presents with clinical symptoms affecting multiple organ systems suggestive of a mitochondrial disorder. You also have the option to reflex up to Genomic Unity® Exome Analysis or Genomic Unity® Whole Genome Analysis if targeted analysis is non-diagnostic.

Additionally, this test can also be paired with another analysis when clinical symptoms overlap with mitochondrial disorders.

Included Analyses

  • Sequence analysis of nuclear mitochondrial genes (single nucleotide variants, deletions, insertions, and characterized intronic variants)
  • Copy number variant analysis of nuclear mitochondrial genes (duplications/deletions, mobile element insertions, and inversions)
  • Mitochondrial genome sequence analysis with heteroplasmy (≥5%) and large deletion analysis. 

Optionally includes:

Included Genes

Mitochondrial genes

MT-ATP8, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6, MT-RNR2, MT-TA, MT-TR, MT-TN, MT-TD, MT-TC, MT-TE, MT-TQ, MT-TG, MT-TH, MT-TI, MT-TL1, MT-TL2, MT-TK, MT-TM, MT-TF, MT-TP, MT-TS1, MT-TS2, MT-TT, MT-TW, MT-TY, MT-TV, MT-RNR1, MT-RNR2

Note: The PRODH gene is not fully covered by this test; therefore, variants in certain regions of this gene may not be detected.

Disorders

This text covers many disorders including:

  • Complex I deficiency
  • Complex II deficiency
  • Complex III deficiency
  • Complex IV deficiency
  • Complex V deficiency
  • CPT I deficiency
  • CPT II deficiency
  • Mitochondrial HMG-CoA synthase deficiency

  • Mitochondrial trifunctional protein deficiency
  • Diabetes mellitus and deafness (DAD)
  • Leber’s hereditary optic neuropathy (LHON)
  • Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
  • Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
  • Myoclonic epilepsy with ragged red fibers (MERRF)
  • Neuropathy, ataxia, retinitis pigmentosa (NARP)

Test Performance

 %
Sensitivity for SNVs
 %
Specificity for SNVs
 %
Positive predictive value for SNVs
 %
Clinical sensitivity for structural variants

Mitochondrial variants:

Reported when heteroplasmy is ≥5%

CPT Codes

81460, 81465, 81440

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 4 weeks from receipt of required samples.

Contact Us

Please contact customer service to request a kit.

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