Galactose-1-PUT Quant (Sendout)

Lab Name: Galactose_1_PUT Quant
Lab Code: RGPUTQ
Epic Name: Galact-1-Phos. Uridyl Transferase ,Qnt
External Test Id: LAB994
Description: Description: Quantitation of galactose-1-phosphate uridyltransferase for diagnosis of galactosemia.

Clinical Utility: Used to identify infants suspected of transferase deficiency from clinical manifestations. 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.
Synonyms: G1PUT QNT, Gal-1-PUT, Galactose-1-PUT Screen, GALT Enzyme, LAB994, Phosphagalactose Transferase
Components

Method

Fluorometric

Reference Range

Units: U/g HB

Female		Male
Age	Range	Age	Range
0-	14-28	0-	14-28

Effective date: 07/20/2021

Ref. Range Notes

Classic galactosemia = 0-1 U/G hemoglobin

Interferences and Limitations

Note: Recent blood transfusion would invalidate results.

Specimen Type

Blood

Collection

2 mL DARK GREEN TOP (Sodium Heparin) tube.

Also Accepted: Yellow ACD or Lavender (EDTA)

Unacceptable: Gel tubes

Forms & Requisitions

Handling Instructions

Outside Laboratories: Refrigerate whole blood in original collection container. Expedite transport to the laboratory.

Stability: Refrigerated: 1 week; Ambient: 24 hours; Frozen: Unacceptable.

Quantity

Requested: 2 mL whole blood
Minimum: 1 mL whole blood

Receiving Instructions

Refrigerate whole blood in original collection container.

Sendouts:

Order SEACHL test: LAB994
Send samples as received with a completed SCH Biochemical Genetics requisition via Delivery Express courier.

Stability: Refrigerated: 1 week; Ambient: 24 hours; Frozen: Unacceptable.

Reject Due To: Clotted samples. Contact the Biochemical Genetics Lab for requests outside of stated availability (206) 987-2216.

Lab Department

Sendouts(SO)

Frequency

Performed: Weekly. TAT: 2-5 days.

Available STAT?

No

Performing Location(s)

Sendout	Seattle Children's Hospital Laboratories 206-987-2617 4800 Sand Point Way NE Seattle, WA 98105	Room Number: FB.2.441

General Information