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Test Code PKU Newborn BloodSpot Screen

Important Note

For detailed information and FAQ, please go to Maine.gov website here.

New Hampshire information and FAQ can be found here.

Additional Codes

Patient Stay Epic Lab Code
Inpatient LAB11372
Outpatient LAB480

 

Performing Laboratory

Maine Health and Environmental Testing Laboratory

Useful For

Screening to detect the absence or deficiency of an enzyme, phenylalanine hydroxylase

Specimen Type

Blood Spot

Preferred Container

PKU Filter Paper

Specimen Collection and Handling

This test, if not collected during the hospital birth admission, should be collected according to the guidelines provided by the State of Maine or New Hampshire.
This test will only be collected at Maine Health hospital sites, and is not collected at NorDx Patient Service Center sites.

Complete ALL information on the PKU form.
Do not contaminate filter paper circles by allowing the circles to come in contact with spillage or by touching before or after blood collection.
Keep “SUBMITTER COPY” if applicable.

To Collect:

1. Puncture heel.

2. Wipe away first blood drop with sterile gauze pad.

3. Allow another LARGE blood drop to form.

4. Lightly touch filter paper to LARGE blood drop.

5. Allow blood to soak through and completely fill circle with SINGLE application to LARGE blood drop.

6. To enhance blood flow, VERY GENTLE intermittent pressure may be applied to area surrounding puncture site.

7. Apply blood to one side of filter paper only.

8. Fill remaining circles in the same manner as the first circle, with successive blood drops.

9. Dry blood spots on a dry, clean, flat non-absorbent surface for a minimum of four hours.

10. Mail completed form to testing laboratory within 24 hours of collection.

Add On Capable

Not Permitted

Advance Beneficiary Notice Requirements

No ABN Required

Performing Laboratory Location

Maine Health and Environmental Testing Laboratory

Clinical Significance

The absence or deficiency of an enzyme, phenylalanine hydroxylase, that allows phenylalanine to accumulate in the blood and is toxic to brain tissue. Early detection and treatment is essential to prevent associated neurological symptoms.
Without treatment, most infants develop mental retardation that is usually severe. These infants may also develop additional neurological symptoms such as seizures, hyperactivity and aggressive behavior.
With good dietary control and monitoring, these potential effects of PKU can be minimized.

LOINC Code Information

29571-7