Myotonia Panel

Concurrent analysis of multiple genes, including repeat analysis of DMPK and CNBP, associated with myotonia. 

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis
  • Identification of at-risk family members
  • Assist with treatment/ management decisions
  • Recurrence risk assessment

Test Details

Genes

ATP2A1, CACNA1S, CAV3, CLCN1, CNBP, DMPK, GLRA1, HINT1, PTRF, SCN4A

Conditions

  • Brody Disease
  • Hyperekplexia
  • Lipodystrophy
  • Myotonia Congenita
  • Myotonic Dystrophy
  • Neuromyotonia
  • Paramyotonia Congenita
  • Periodic paralysis
  • Potassium-aggrevated myotonia
  • Rippling muscle disease

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing
  • PCR Fragment Analysis

Ordering Information

Test Code: TG82
CPT Codes*: 81404x1, 81406x2, 81187x1, 81234x1, 81479x1
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: Buccal Swabs | Extracted DNA

*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