In order to ensure 2023 billing, testing must be activated before the end of the year, or within 30 days of proband sample collection (if sample was collected in 2023). For Exome, Genome, or Xpanded testing, if you do not expect parental samples to be received in time for testing to be activated with 2023 billing, please contact us at [email protected] to determine how to proceed.

PTS Gene Sequencing & Del/Dup

Genes

PTS

Conditions

  • 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency

Clinical Utility

  • Confirmation of biochemical diagnosis
  • Carrier testing

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

380

CPT Codes*

81479x1

ABN Required

No

Turnaround Time**

4 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.

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