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Bestrophinopathy (BEST1)


Genes

BEST1

Conditions

  • Best Vitelliform Macular Dystrophy

Clinical Utility

  • Confirmation of clinical diagnosis
  • To differentiate different type of Bestrophinopathies and other types of macular degeneration
  • Pre-symptomatic testing
  • Prenatal diagnosis

Lab Method

  • Capillary Sequencing
  • Deletion/Duplication Analysis

Test Code

TA87

CPT Codes*

81406x1

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.