Master's in Genetic Counseling (MGC)

Maple Syrup Urine Disease Screening in Virginia

Screening for MSUD in the state of Virginia is performed by a bacterial inhibition assay to determine the level of leucine in the dried filter paper blood spot. A serum analysis is required for diagnostic testing.

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

Newborn Screening Result Interpretation Follow-Up Action Recommended
initial leucine level <4 mg/dl within normal limits none
initial leucine level >4 mg/dl - 5 mg/dl abnormal elevation of leucine A repeat filter paper specimen is required.
initial leucine level >6 mg/dl abnormal elevation of leucine Immediately refer the patient for serum diagnostic testing through one of the pediatric metabolic consultants.

 

All critical screening results are called out by the state laboratory to the Newborn Screening follow-up staff at the Virginia Department of Health. The follow-up staff will notify the appropriate consultant/physician.

 

Return to MSUD / State Screening Program Contacts / Virginia Consultants

 

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