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Supravalvular Aortic Stenosis / Autosomal Dominant Cutis Laxa (ELN)

New York
Approved


Genes

ELN

Conditions

  • Cutis Laxa
  • Supravalvular Aortic Stenosis
  • Williams-Beuren syndrome

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Presymptomatic testing to identify individuals at risk for SVAS
  • Targeted testing of family members for a known familial mutation
  • Prenatal diagnosis in at-risk pregnancies

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TA86

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

3 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.