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. |
Identifying mutations in individuals who test negative for the common mutations and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status
Not the preferred first-tier molecular test for carrier screening or diagnosis. Used to identify mutations in individuals with a clinical diagnosis of galactosemia when GAL14 / Galactosemia Gene Analysis (14-Mutation Panel) is negative or uninformative.
See Galactosemia Testing Algorithm in Special Instructions.
Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing