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PAH Gene Sequencing & Del/Dup for PKU

New York
Approved


Genes

PAH

Conditions

  • Phenylalanine hydroxylase deficiency
  • Phenylketonuria
  • Hyperphenylalaninemia

Clinical Utility

  • Confirmation of a biochemical diagnosis
  • Carrier testing for at-risk relatives
  • Risk assessment
  • Prenatal diagnosis in families with an affected child and known mutations

Lab Method

  • Next-Gen Sequencing
  • Deletion/Duplication Analysis

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.

**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.