Master's in Genetic Counseling (MGC)

Homocystinuria Screening in Virginia

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

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
initial methionine level <2 mg/dl	within normal limits	none
initial methionine level >2 mg/dl - 3 mg/dl	abnormal elevation of methionine	A repeat filter paper specimen is required.
initial methionine level >4 mg/dl	abnormal elevation of methionine	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.

 

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