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Sorted By Test Name - Mayo Medical Laboratories

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FGAGE<br />

57346<br />

GAL6<br />

84366<br />

analysis with a panel of common mutations is typically performed to determine the specific genotype. If<br />

the enzymatic and molecular results are incongruent, biochemical phenotyping and/or molecular sequence<br />

analysis may be beneficial to help clarify results to determine a treatment strategy. For more information<br />

regarding diagnostic strategy, refer to Galactosemia: Current <strong>Test</strong>ing Strategy and Aids for <strong>Test</strong> Selection,<br />

<strong>Mayo</strong> <strong>Medical</strong> <strong>Laboratories</strong> Communique 2005 May;30(5). See Galactosemia <strong>Test</strong>ing Algorithm in<br />

Special Instructions for additional information.<br />

Useful For: Determining the biochemical phenotype for galactosemia when enzymatic and molecular<br />

results are incongruent A quantitative galactose-1-phosphate uridyltransferase level (GALT/8333<br />

Galactose-1-Phosphate Uridyltransferase [GALT], Blood) is used in addition to the isoelectric focusing<br />

for accurate interpretation.<br />

Interpretation: An interpretive report will be provided. See Galactosemia <strong>Test</strong>ing Algorithm in<br />

Special Instructions for additional information.<br />

Reference Values:<br />

Descriptive report<br />

Clinical References: 1. Elsas LJ: Galactosemia. NCBI GeneReviews. Updated 2010, Oct 26.<br />

Available from www.ncbi.nlm.nih.gov/books/NBK1518 2. Holton JB, Walter JH, Tyfield LA:<br />

Galactosemia. In The Metabolic and Molecular Basis of Inherited Disease. Vol. 1. 8th edition. Edited by<br />

CR Scriver, AL Beaundet, WS Sly, et al. New York, McGraw-Hill Book Company, 2001, pp 1553-1587<br />

Galactose-alpha-1,3-galactose (Alpha-Gal) IgE<br />

Interpretation: Class IgE (kU/L) Comment 0 or = 100 Very High Positive<br />

Reference Values:<br />

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