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Diagnostic Services

Genetics Lab


Galactosemia - Galactose-1-Phosphate

Galactosemia is an inherited disorder of galactose metabolism. Individuals with galactosemia are unable to break down galactose, a sugar found primarily in dairy products and some vegetables and legumes. Galactosemia is caused by a deficiency in the enzyme galactose-1-phosphate uridyltransferase, and individuals with galactosemia have mutations in the GALT gene. They also have elevated galactose-1-phosphate, a metabolite of galactose metabolism. Galactosemia affects about 1/10000 individuals and is included in the Washington State newborn screening program.

Test Name: Galactose-1-phosphate, Quantitative
Test Code:
Test Description:
Quantitative measurement of galactose-1-phosphate in red blood cells
This test is used to monitor known galactosemia patients
Related Tests: Galactose-1-phosphate Uridyl Transferase, Quantitative  
This test is used to diagnose galactosemia in a symptomatic individual. It can also be helpful for determining carrier status.

Galactosemia (8 Mutations)  
This test is used to provide additional information regarding diagnosed patients, provide carrier testing for at-risk family members or general population carrier screening.

Galactosemia DNA 1 Mutation  
This test is used to provide carrier testing or prenatal testing for at-risk family members. Mutations must be known.

Clinical Links: Galactosemia GeneReview
Turnaround Time:
5 days
Fluorometric assay of red cell hemolysate
Reference Range:
<1 mg/dl
Consent Form:
Sample Requirements: Type
Whole blood: 2 mL
No gel separator

Special processing required. Must wash red cells and then freeze. Call for assistance.

Overnight shipping, frozen.
Samples Received:
Mon – Fri 8:00 am – 5:00 pm PST
Special Considerations:
Please call for sample handling instructions. (206) 987-1406 or (206) 987-2216.
Please e-mail Client Services or call at 206-987-2617 with any billing questions
CPT Code:
Please e-mail Client Services or call at 206-987-2617 with any billing questions