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PABPN1 Repeat Analysis


Genes

PABPN1

Conditions

  • Oculopharyngeal Muscular Dystrophy (OPMD)

Clinical Utility

  • Molecular confirmation of a clinical diagnosis

Lab Method

  • Capillary Sequencing

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.

**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.