Galactosemia: Galactose-1-Phosphate, Quantitative, Red Blood Cells, Pediatric


Sunquest Code:GALPHO  
Epic Code:LAB3491Epic Name:Galactose 1 Phosphate RBC
Synonyms:Galactose 1 Phosphate
Methodology:Enzymatic/spectrophotometric
CPT Code:84378
Turnaround Time:Specimens are sent to reference laboratory Mon-Thur; results are reported within 7-10 days.
Special Instructions:Specimen must be collected Mon-Thur only and arrive within 24 hours of collection.


Collection Instructions

Specimen:Blood
Optimal Volume:5 mL for patients over 2 years of age
Minimum\Peds Volume:3 mL for infants


Processing and Shipping

Specimen Processing:Do not process. Store in refrigerator.
Shipping Instructions:Ship at room temperature to arrive within 24 hours. Protect from temperature extremes.
Test Performed at or Referral Lab Lab Sendouts  (Emory Genetics Laboratory)
Referral Lab number:GP


Interpretive

Reference Range:0-1.0 mg/100 mL red cells
Use:This test is indicated for monitoring the effectiveness of therapy in individuals with biochemical diagnosis of classical, Duarte, or epimerase deficient galactosemia. This test is NOT recommended for galactosemia screening or diagnosis in persons with a positive newborn screen.


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