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HelpTest Code LAB994 Galactose 1 Phosphate Uridyltransferase, Enzyme Activity
Clinical System Name
Galactose 1 Phosphate Uridyltransferase, Enzyme Activity
Synonyms
G1PUT QNT
GALT Enzyme
Gal-1-PUT
Sample Requirements
Specimen: Whole Blood
Container(s): Dark Green/Sodium Heparin Tube
Preferred Vol: 2.0 mL
Minimum Vol: 1.0 mL
Note:
Also acceptable Yellow/ACD or Lavender/EDTA tube.
Do NOT use gel separator tubes.
Clotted samples are not acceptable.
Processing Instructions
Reject due to:
Spin: N
Aliquot:N
Temp: 4 C in CPA1 Refrigerator, FrigA Rack
Special instructions: Notify Biochemical Genetics (987-2216). Put extra label in RT BG box.
Off-site collection: Sample stable in refrigeration up to 1 week. Ship overnight with cold pack and store refrigerated on arrival.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| whole blood | Room temp |
24 hrs |
| whole blood | Refrigerated | 1 week |
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Weekly | 2-5 days |
Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82775
Methodology
Method: Fluorometric
Analytical Volume:
Limitations: Note: Recent blood transfusion would invalidate these results.
Reference Range
| Range |
| 14-28 U/G hemoglobin |
| Classic galactosemia = 0-1 U/G hemoglobin |
Description
Quantitation of galactose-1-phosphate uridyltransferase for diagnosis of galactosemia
Clinical Utility
Galactosemia is an inherited disorder of galactose metabolism affecting about 1/60000 individuals. 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. Galactosemia is a targeted disease in the Washington State newborn screening program.
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)
Special Instructions
Links to:
Consent Forms
Algorithms