Master's in Genetic Counseling (MGC)

Phenylketonuria Screening in West Virginia

Screening for PKU in the state of West Virginia is performed by an automated fluorometric assay which yields a quantitative chemical analysis of phenylalanine from the filter paper blood spot. Diagnostic testing consists of a quantitative determination of phenylalanine and tyrosine on a blood specimen as ordered by a metabolic specialist.

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
phenylalanine <4 mg/dl	normal	none
phenylalanine 4-10 mg/dl	possible PKU	A repeat filter paper specimen is required. If the repeat specimen is elevated, the child must be referred to a metabolic specialist for diagnostic testing. The child will receive nutrition guidance under the care of the metabolic specialist.
phenylalanine >10 mg/dl	PKU	A repeat filter paper specimen is required. If the repeat specimen is elevated, the child must be referred to a metabolic specialist for diagnostic testing. The child may begin PKU formula under the care of the metabolic specialist.

 

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