Master's in Genetic Counseling (MGC)

Biotinidase Deficiency in Virginia

Screening for biotinidase deficiency in the state of Virginia is performed by a qualitative colorimetric analysis that will indicate the presence or absence of biotinidase enzyme activity in the dried filter paper blood spot. A serum analysis is required for diagnostic testing.

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

Newborn Screening Result	Interpretation	Follow-Up Action Recommended
initial color change indicates enzyme activity is present	within normal limits	none
abnormal color change	no enzyme activity	A repeat filter paper specimen is required. If the repeat is abnormal, a serum analysis is required for diagnostic testing.

 

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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