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Disorders of Hyperphenylalaninemia & Biopterin Metabolism Panel


Genes

DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR

Conditions

  • Hyperphenylalaninemia
  • Biopterin Metabolism

Clinical Utility

  • Molecular confirmation of a suspected biochemical diagnosis
  • Testing of patients suspected of having a disorder of hyperphenylalaninemia or biopterin metabolism
  • Identification of at-risk family members

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

Test Code

J995

CPT Codes*

81405x2; 81406x1; 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.

**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.