Galactosemia - Galactitol, Urine


Sunquest Code:GALACU  
Epic Code:LAB3489Epic Name:Galactosemia Galactitol Urine
Synonyms:Urinary Glactitol
Methodology:Gas chromatrography/ Mass spectrometry
CPT Code:84378, 82570
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur; results are reported within 7-10 days.
Special Instructions:For diagnostic purposes, specimens should ideally be collected during time of acute illness as abnormal metabolite levels may decrease, sometimes to near normal concentrations, when the patient is well.
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Urine Collection Procedure



Collection Instructions

Specimen:Urine, random collection
Optimal Volume:Submit entire collection; analysis requires 2 mL
Patient Preparation:Fasting or first void sample is preferable.


Processing and Shipping

Specimen Processing:Mix collection well before aliquot is taken. Aliquot 5 mL, 2 mL minimum. Store in freezer.
Shipping Instructions:Ship overnight on dry ice.
Test Performed at or Referral Lab Lab Sendouts  (Emory Genetics Laboratory)
Referral Lab number:GL


Interpretive

Reference Range:

 

 

Age

Normal

mmol/mol creatinine

Galactosemia (Q188R/Q188R)

mmol/mol creatinine

Less than 1 year

0-94.7

183-909

1-6 y

0-45.3

194-620

Greater than 6 y

0-18.4

98-282

 

 

Use:Use to diagnose galactokinase or GALT deficient galactosemia. Monitor effectiveness of therapy in individuals with biochemical diagnosis of classical or Duarte galactosemia or variant galactosemia due to galactokinase or epimerase deficiency. This test is NOT recommended for galactosemia screening or diagnosis of persons with positive newborn screen.


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