Sign in →

Test Code G1PUT QNT Galactose 1 Phosphate Uridyltransferase

Clinical System Name

Galactose 1 Phosphate Uridyltransferase

Synonyms

G1PUT QNT

GALT Enzyme

Gal-1-PUT

Description

Quantitation of galactose-1-phosphate uridyltransferase for diagnosis of galactosemia

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, FrigGreen 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

 

 

Reference Range

 

Range
14-28 U/G hemoglobin

 

Methodology

Method: Fluorometric

Analytical Volume:

Limitations:

CPT Codes

82775

Special Instructions

Links to:

Consent Forms

Algorithms

Requisition

Biochemical Genetics Requisition

 

On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)

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.

Related Tests