Known mtDNA Variant(s) by NGS-Test 453

NY Approved

Test Overview

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

Test Details

Conditions

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

Lab Method

  • Next-Gen Sequencing

Ordering Information

Test Code: 453
CPT Codes*: 81479x1
ABN Required: No
Turnaround Time**: 3 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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs