Genomic Unity® Mitochondrial Genome Sequence Analysis
Test Code – MD002
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 as 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 Sequence Analysis uses a whole genome sequencing platform to diagnose mitochondrial disorders due to small sequence changes in 37 mitochondrial genes. For broader analysis, consider adding Genomic Unity® Mitochondrial Genome Deletions Analysis and Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis. Additional testing will be performed consecutively when the prior testing is non-diagnostic.
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, Genomic Unity® Exome Plus 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.
- Mitochondrial genome sequence analysis (single nucleotide variants, deletions, insertions, and characterized regulatory variants), with heteroplasmy (≥5%)
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
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.