Label Mnemonic: GALKINASE
Epic Lab Code: LAB3189
Downtime Form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mail-out Laboratory
5231 RCP
Specimen Instructions:
Collection date is required on request form for processing; include type of specimen sent (heparinized whole blood) on request form.
Collection Medium:
Lavender top tube 3 mL (EDTA)
Minimum: Full draw; 3.0 mL whole blood from fasting patient in lavender top (EDTA) tube
Peds Minimum: 2 mL whole blood from fasting patient in lavender top (EDTA) tube
Rejection Criteria:
Sample must be received at reference laboratory within 48 hours of collection, collect Monday through Thursday only; do not collect on Fridays, holidays, day before a holiday, or weekends. Specimen cannot be frozen.
Delivery Instructions:
Submit specimen to laboratory as soon as possible after collection.
Testing Schedule:
Monday - Thursday only, no weekends or holidays.
Turn Around Time:
9 days upon receipt at reference laboratory
Reference Range:
> or = 0.7 nmol/h/mg of hemoglobin
Interpretive Data:
Low values suggest galactokinase deficiency.

Only results below the normal range are clinically significant. Elevated values have no clinical significance.
Whole blood to be washed at reference laboratory. If specimen cannot arrive within 48 hours, please send washed erythrocytes. Draw blood in a lavender top (EDTA) tube from a fasting patient (4 hour preferred, nonfasting acceptable), and send 3 mL of whole blood refrigerated.

It is important to notify the laboratory if the patient has been transfused prior to specimen collection. The results of testing performed in erythrocytes are invalid following a transfusion, including analysis of enzymes, biochemical phenotyping, or galactose-1- phosphate.

The most common cause of galactosemia is GALT deficiency. In most cases, GALT deficiency should be ruled out prior to evaluating for GALK deficiency.

Useful For:
Diagnosis of galactokinase deficiency, the second most common cause of galactosemia.
CPT Code: