Master's in Genetic Counseling (MGC)

Phenylketonuria Screening in Pennsylvania

Screening for PKU in the state of Pennsylvania is performed by the Guthrie bacterial inhibition assay or other methods as approved and specified by the Pennsylvania Bureau of Laboratories (including fluorometric methods). Screening is performed on a single filter paper blood spot from which the level of phenylalanine is determined. Diagnostic testing consists of amino acid analysis conducted by either the Pennsylvania Bureau of Laboratories or contracted treatment centers.

The follow-up recommendations for PKU screens in the state of Pennsylvania are as follows:

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
<4 mg/dl	normal	none
>4 mg/dl	abnormal result	A repeat filter paper specimen is required immediately.

Note: Any specimens yielding abnormal or inconclusive results, unacceptable specimens, or any specimens collected before 24 hours after birth that yield a normal result require a repeat filter paper specimen to be collected immediately.

 

Return to PKU / State Screening Program Contacts / Pennsylvania Consultants