Galactosemia: GALT Enzyme Activity

Sunquest Code:GALTEZ  
Epic Code:LAB6093Epic Name:GALT Enzyme Activity
Synonyms:Galactose-Phosphate Uridyltransferase
Methodology:Liquid chromatography/Tandem mass spectrometry
CPT Code:82775
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur by 1300; results are reported within 7-10 days.
Special Instructions:Collect Mon-Thur only. Must be received at reference laboratory within 24 hours of collection.

Collection Instructions

Specimen:Whole Blood
Optimal Volume:5 mL
Minimum\Peds Volume:3 mL

Processing and Shipping

Specimen Processing:Whole blood. Do not process. Store at refrigerated temperature.
Shipping Instructions:Ship at room temperature to arrive within 24 hours of collection.
Test Performed at or Referral Lab Lab Sendouts  (Emory Genetics Laboratory)
Referral Lab number:GT


Reference Range:Normal (N/N): 22.1-46.3 umol/Hr/g Hb Galactosemia carrier (G/N): 8.5-23 umol.Hr/g Hb Duarte galactosemia (D/G): 1.9-13.4 umol/Hr/g Hb Classic glactosemia (G/G): 0-0.3 umol/Hr/g Hb
Use:This test is indicated for individuals with biochemical diagnosis of galactosemia or carrier status and a negative or unknown result from mutation analysis for common GALT gene mutations. This test is not recommended for galactosemia screening or diagnosis in persons with a positive newborn screen. Refer to the Comprehensive Galactosemia Panel.

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