Genomic Unity® Comprehensive Mitochondrial Disorders Analysis
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 336 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® Exome Plus Analysis if targeted analysis is non-diagnostic.
Additionally, this test can also be paired with another analysis when clinical symptoms overlap with mitochondrial disorders.
- 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.
MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND4, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY
Note: The NDUFB11, PRODH and SLC6A8 genes are not fully covered by this test, therefore not all pathogenic variants may be detected. The PRODH and TMLHE genes contain regions that are non-unique, therefore not all variants can be assigned to the correct location, limiting interpretation.
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)
Reported when heteroplasmy is ≥5%
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.
A report will be issued within 4 weeks from receipt of required samples.