Home
HelpTest Code GALP Galactose, Quantitative, Plasma
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Specimen Type
Plasma Na HeparinOrdering Guidance
This test is not recommended for follow-up of positive newborn screening results or for diagnosis of galactosemia. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening, and follow-up of abnormal newborn screening results is GCT / Galactosemia Reflex, Blood along with GAL1P / Galactose-1-Phosphate, Erythrocytes.
The preferred test for monitoring dietary therapy is GAL1P / Galactose-1-Phosphate, Erythrocytes for both GALT and GALE deficiencies.
This test may be useful for monitoring in patients with GALM deficiency.
Necessary Information
Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.
Specimen Required
Collection Container/Tube: Green top (sodium heparin)
Submission Container/Tube: Plastic vial
Specimen Volume: 0.5 mL
Collection Instructions: Centrifuge and aliquot plasma into a plastic vial
Specimen Minimum Volume
0.2 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Plasma Na Heparin | Frozen (preferred) | 365 days | |
| Ambient | 20 days | ||
| Refrigerated | 20 days |
Reference Values
≤7 days: <5.4 mg/dL
8-14 days: <3.6 mg/dL
≥15 days: <2.0 mg/dL
Day(s) Performed
Tuesday
CPT Code Information
82760
Report Available
4 to 10 daysSpecimen Retention Time
1 monthReject Due To
| Gross hemolysis | OK |
| Gross lipemia | OK |
Genetics Test Information
Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.
Plasma galactose can be elevated in patients with galactosemia caused by GALT deficiency, galactokinase deficiency, or galactose mutarotase deficiency.
Classic galactosemia can be diagnosed by analysis of GALT enzyme.