Master's in Genetic Counseling (MGC)

Maple Syrup Urine Disease Screening in Pennsylvania

Screening for MSUD 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. Screening is performed on a single filter paper blood spot from which the level of leucine 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 MSUD screens in the state of Pennsylvania are as follows:

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
leucine <4 mg/dl	normal	none
leucine >4 mg/dl, <24 hours after birth	presumptive positive	A repeat filter paper specimen is required immediately.
leucine >5 mg/dl, >24 hours after birth	presumptive positive	A repeat filter paper specimen is required immediately.

 

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.

 

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