Test Name & Code:
• Test Name: Galactosemia Genetic Analysis (GALT Gene)
• Test Code: 4821
• Test Code: 4821
Related Diseases & Genes:
Synonyms:
• Galactose-1-Phosphate Uridylyltransferase Deficiency
• Galactose-1-Phosphate Uridylyltransferase Gene Mutation Analysis
• GALT Mutation Analysis
• Galactose-1-Phosphate Uridylyltransferase Gene Mutation Analysis
• GALT Mutation Analysis
Test Details:
• Methodology: DNA Sequencing
• Performed: Everyday
• Reported: 1 week
• Performed: Everyday
• Reported: 1 week
Specimen Details:
• Specimen Collection: Peripheral blood
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
• Container: Tube with EDTA
• Specimen Volume/Amount: > 5 ml
• Storage/Transport Condition: Refrigerated
• Unacceptable Specimens/Conditions: Serum; Frozen specimens; Hemolyzed specimens; Icterus; Lipemia
Testing Area(s):
• Inborn Errors of Metabolism
