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EDA1 Gene Sequencing & Del/Dup

New York
Approved


Genes

EDA1

Conditions

  • Ectodermal Dysplasia
  • Hypo-/Anhidrotic Ectodermal Dysplasia

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Differentiation between X-linked and recessive forms of the disease
  • Carrier detection in female relatives of an affected male
  • Prenatal diagnosis in at-risk pregnancies

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

1601E

CPT Codes*

81479x1

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.