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Stargardt Panel

New York
Approved


Genes

ABCA4, ELOVL4, RDS (PRPH2)

Conditions

  • Fundus Flavimaculatus
  • Stargardt Disease

Clinical Utility

  • Confirmation of a clinical diagnosis
  • Determine if a sporadic case is recessive or dominant (de novo)
  • Carrier testing for family members of an affected individual with known mutation(s)
  • Prenatal diagnosis in at-risk pregnancies
  • Presymptomatic testing

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

TG49

CPT Codes*

81404x1 , 81408x1

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.

**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.