Galactosemia Screen

Alternate test name

Galactose-1-Phosphate-Uridyltransferase Screen, GAL-1-PUT Screen, G1PUT Screen

Lab area

Clinical Biochemistry - Metabolic Diseases

Method and equipment

Classic Beutler Test identifying the fluorescence of NADPH following incubation of whole blood with Galactose-1-Phosphate. This is only a qualitative assessment.

Expected turn-around time

1 week

Specimen type

Heparinized whole blood. (Lithium Heparin, in tube or syringe)

Specimen requirements

0.5 mL heparinized whole blood.

Storage and transportation

Refrigerate immediately. Samples from external clients should be kept in 4°C. Do not freeze.

Special requirements

Testing is available for patients <18 years of age.
For patients >18 years of age, clinical indication must be provided for Biochemical Geneticist approval.
The patient should not receive any blood transfusion within the last 3 months from the time of collection.
Specimen must not be separated.

Shipping information

The Hospital for Sick Children

Rapid Response Laboratory

555 University Avenue, Room 3642

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200

Toll Free: 1-855-381-3212

Hours: 7 days/week, 24 hours/day

Background and clinical significance

Galactosemia is a disorder of galactose metabolism which, if untreated, results in cirrhosis of the liver, blindness and mental retardation. If detected early, the institution of a galactose free diet prevents these abnormalities from developing. One form of Galactosemia is due to the hereditary absence of the enzyme, galactose-1-phosphate uridyl transferase. This enzyme is normally present in the formed elements of the peripheral blood. The disorder can be diagnosed by demonstrating absence of transferase from the blood.

Disease condition

Galactosemia

GALT Deficiency

Galactose-1-Phosphate Uridyl Transferase Deficiency