PABPN1 Repeat Analysis

NY Approved

Test Overview

Clinical Utility

  • Molecular confirmation of a clinical diagnosis

Test Details

Genes

PABPN1

Conditions

  • Oculopharyngeal Muscular Dystrophy (OPMD)

Lab Method

  • Capillary Sequencing

Ordering Information

Test Code: 743
CPT Codes*: 81312x1
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.

**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.

Resources

Test Documents

Billing

Targeted Variant Testing

FAQs