Galactose-1-PUT (Quant)

General Information

Lab Name: Galactose_1_PUT Quant
Lab Code: RGPUTQ
Epic Ordering: 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.
Forms & Requisitions: SCHL Biochemical Genetics Requisition
Synonyms: G1PUT QNT, Gal-1-PUT, Galactose-1-PUT Screen, GALT Enzyme, LAB994, Phosphagalactose Transferase

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 HB

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: SCHL Biochemical Genetics Requisition
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

Processing

Refrigerate whole blood in original collection container.

Sendouts:

Order SCHL 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.

LIS Dept Code

Sendouts (SO)

Performing Location(s)

Sendout	Seattle Children's Hospital Department of Laboratories 206-987-2617 4800 Sand Point Way NE OC.8.720 Seattle, WA 98105

Frequency

Performed: Weekly. TAT: 2-5 days.

Available STAT?