PAH Gene Sequencing & Del/Dup for PKU

NY Approved

Test Overview

Clinical Utility

  • Confirmation of a biochemical diagnosis
  • Carrier testing for at-risk relatives
  • Risk assessment

Test Details

Genes

PAH

Conditions

  • Hyperphenylalaninemia
  • Phenylalanine hydroxylase deficiency
  • Phenylketonuria

Lab Method

  • Deletion/Duplication Analysis
  • Next-Gen Sequencing

Ordering Information

Test Code: 273
CPT Codes*: 81406x1
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.

**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