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Known mtDNA Variant(s) by NGS-Test 453


  • Carrier/Variant-Specific Testing
  • Carrier/Variant-Specific Testing - mtDNA Variants
  • MtDNA-related disorders

Clinical Utility

  • Carrier testing for a specific mutation previously identified in a family
  • Clinical laboratory confirmation of one or more mutations identified in a research laboratory

Lab Method

  • Next-Gen Sequencing

Test Code


CPT Codes*


ABN Required


Turnaround Time**

3-4 weeks

Preferred Specimen

Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen) | 2-5 mL Blood - Lavender Top Tube

Alternative Specimen

Buccal Swabs | Cultured Fibroblasts (2-T25 Flasks Near Confluence)

*The CPT codes provided are based on AMA guidelines and 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.

**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.