Web: | mayocliniclabs.com |
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Email: | mcl@mayo.edu |
Telephone: | 800-533-1710 |
International: | +1 855-379-3115 |
Values are valid only on day of printing. |
Second-tier test for confirming biotinidase deficiency (indicated by biochemical testing or newborn screening)
Carrier testing of individuals with a family history of biotinidase deficiency, but disease-causing mutations have not been identified in an affected individual
Amplification and DNA sequencing are utilized to test for the presence of a mutation in the BTD gene.
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing