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Test Code
PKUR
Test Name
Newborn Screen, State, Repeat
Included Tests
  • Congenital Adrenal Hyperplasia
  • Congenital Hypothyroidism
  • Galactosemia
  • Sickle Hemoglobinopathies
  • Maple Syrup Urine disease (MSUD)
  • Phenylketonuria (PKU)
  • Pompe Disease testing
  • Hurler (MPS-I)
  • X-Linked Adrenoleukodystrophy (XALD)
Expected Turnaround Time
5 - 10 days
Clinical Utility
Useful to screen for many genetic and metabolic disorders in newborns.
Specimen and Container Info

Preferred Specimen Type: Dry Blood Spot

Preferred Collection Container: Filter Paper

Desired Specimen Volume: All Circles Filled
Collection Instructions
Collect specimen 24-48 hours after birth
Pretransfusion specimen is essential, if transfused, wait 3 days prior to obtaining specimen.
Do not submit cord blood.
Capillary blood is obtained by heel. puncture and applied directly to the filter paper collection card.
Do not layer successive drops.
Apply blood to only one side of the filter paper.
Make sure the blood has saturated through to the back of the filter paper.
Air dry specimen at room temperature in a horizontal position for a minimum of 2 hours, cover blood on collection card with protective end-flap, and forward specimens promptly to laboratory in a special labeled transport envelope.
Processing and Submission Instructions

Only order if repeat testing is warranted.

Do not expose the specimens to heat during drying or transport.
Transport Instructions

Transport to the laboratory at room temperature.
Stability Requirements

Room Temperature

1 week
Methodology
Varies By Test
Reference Lab
Perkinelmer Genetics, Inc.
Testing Schedule
Routine, Monday - Saturday
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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