Ehlers Danlos Panel

New York
Approved


Genes

COL1A1, COL3A1, COL5A1, COL5A2

Conditions

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

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

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

T998

CPT Codes*

81408x1

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.

**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.