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Diagnostic Services

Genetics Lab


Galactosemia Known Mutation Analysis

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: Galactosemia DNA 1 Mutation
Test Code:
Test Description:
Analysis of the GALT gene for known familial mutations.
This test is used to provide carrier testing or prenatal testing for at-risk family members. Mutations must be known.
Related Tests: Galactose-1-phosphate, Quantitative  
This test is used to monitor known galactosemia patients.

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.

Maternal Cell Contamination - DNA  
Maternal DNA is compared to fetal DNA to evaluate whether maternal cell contamination of the fetal sample has occurred.

Clinical Links: Galactosemia GeneReview
Mon - Fri
Turnaround Time:
2 weeks
PCR and sequencing
Reference Range:
Interpretive report will be provided
Consent Form:
Sample Requirements: Type
Whole blood:1-3 ml in EDTA (purple top) or ACD (yellow top).
DNA: 5-10 ug extracted DNA.
Prenatal samples: 2 T-25 flasks.

Do not spin. Refrigerate blood samples which will not be immediately shipped.

Room temperature by overnight shipping. Ship cultured cells in appropriate media.
Samples Received:
Mon - Fri 8:00am - 5:00pm PST
Special Considerations:
For prenatal testing mutations must be known and maternal cell contamination testing is required (ordered separately).
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