Ehlers Danlos Panel

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis in symptomatic individuals
  • Risk assessment of asymptomatic family members of a proband diagnosed with Ehlers-Danlos syndrome or related disorder
  • Genetic counseling and recurrence risk determination

Test Details

Genes

COL1A1, COL3A1, COL5A1, COL5A2

Conditions

  • Arthrochalasia Ehlers-Danlos Syndrome
  • Caffey disease
  • Classical Ehlers-Danlos syndrome
  • Ehlers-Danlos Syndrome
  • Osteogenesis Imperfecta (OI)
  • Vascular Ehlers-Danlos syndrome

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: T998
CPT Codes*: 81408x1, 81479x3
ABN Required: No
Turnaround Time**: 4 weeks
Preferred Specimen: 2-5 mL Blood - Lavender Top Tube
Alternative Specimen: 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.

**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

For Providers

Targeted Variant Testing

FAQs