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mtDNA Deletion Analysis


  • Chronic Progressive External Ophthalmoplegia (CPEO)
  • Kearns-Sayre Syndrome (KSS)
  • Pearson Syndrome
  • Sideroblastic Anemia

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Testing of patients suspected of having a mitochondrial disorder

Lab Method

  • Next-Gen Sequencing

Test Code


CPT Codes*


ABN Required


Turnaround Time**

4 weeks

Preferred Specimen

Solid Tissue (>50 mg Muscle, Liver, Heart, Kidney or Brain-Flash Frozen)

Alternative Specimen

2-5 mL Blood - Lavender Top Tube | Buccal Swabs

*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.