Genetic Test Details

Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)

Test Information

Title
Galactosemia-Galactose-1-Phosphate Uridyl Transferase (GALT)
Lab
Category
Metabolic
Sub Category
Galactosemia
Gene/Platform/Region List

GALT (N314D, Q188R)

Test type
Targeted Variant
Samples Accepted
Blood, DNA, Cultured Cells, Buccal Swab, Saliva
Indications
Diagnosis, Carrier Cascade Testing, Prenatal
Test Methodology
Sequencing
Methodology Notes

Targeted Variant: N314D (Duarte variant), Q188R (classic galactosemia)

Disease/Condition

Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)

Last Updated: November 26, 2025

The information on this website is intended for informational purposes only and is not a substitute for medical advice. Always consult your health care provider if you have questions or concerns. The use of the information on this website does not create a physician-patient relationship between Ontario Health and you.
Ontario Health is committed to ensuring accessible services and communications to individuals with disabilities. To receive any information on this website in an alternate format, please contact Ontario Health’s Communications Department at: 1-877-280-8538, TTY 1-800-855-0511, or by email at info@ontariohealth.ca.

© Ontario Health 2025