Galactosemia - Comprehensive Panel


Sunquest Code:GALPAN  
Epic Code:LAB4180Epic Name:Galactosemia Comprehensive Panel (GALPAN)
Synonyms:GALT Deficiency; Duarte; Galactose-1-Phosphate Uridyltransferase (GALT) Deficiency
Methodology:PCR
CPT Code:84378, 82775, 81401
Test Includes:Galactose-1-Phosphate-uridyltransferase (GALT) enzyme activity; Galactose-1-Phosphate concentration
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur; results are reported within 10-14 days.
Special Instructions:Collect samples Mon-Thur only. Samples must be received by reference laboratory within 24 hours of collection.


Collection Instructions

Specimen:Whole Blood
Optimal Volume:7 mL green (sodium heparin, no gel) on patients 2 years of age and older.
Minimum\Peds Volume:5 mL green (sodium heparin, no gel) on patients younger than 2 years of age.


Processing and Shipping

Specimen Processing:Whole blood. Do not process
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:GS


Interpretive

Reference Range:

Normal (N/N)

22.1-46.3 µmol/hr/gm Hb

Galctosemia carrier (G/N)

8.5-23.0 µmol/hr/gm Hb

Duarte glactosemia (D/G)

1.9-13.4 µmol/hr/gm Hb

Classic galactosemia (G/G)

0-0.3 µmol/hr/gm Hb

 

Ranges for Galactose-1-Phosphate (RBC’s):

Normal: 0-1.0 mg/100 mL red blood cells

Classic Galactosemia Therapeutic Range: <3.5 mg/100 mg red blood cells

 

Use:Galactosemia is an autosomal recessive disorder of galactose metabolism that often presents in the newborn period with poor suck, vomiting, diarrhea, bleeding diathesis, lethargy, jaundice and sepsis. Approximately 10% of individuals also have cataracts. If left untreated, an individual may progress to irreversible liver disease and mental retardation.


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