Master's in Genetic Counseling (MGC)

Biotinidase Deficiency in Delaware

Screening for biotinidase deficiency in the state of Delaware is performed by a quantitative colorimetric assay to determine biotinidase enzyme activity. In the presence of the enzyme, a color change occurs. Diagnostic testing requires a liquid blood sample and may be arranged through the Newborn Screening Program Medical Genetics Consultant.

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

Newborn Screening Result Interpretation Follow-Up Action Recommended
color change, activity present normal none
No color change, absent activity abnormal result A repeat filter paper specimen is recommended. If the repeat specimen is abnormal, definitive testing is recommended within 4 days. If definitive testing is abnormal, the diagnosis is confirmed.

 

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