Galactokinase
| Label Mnemonic: | GALKINASE |
| Epic code: | LAB3189 |
| Downtime form: | A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery |
Commercial Mailout Laboratory
6240-8 RCP
356-8593
6240-8 RCP
356-8593
Specimen(s):
Blood
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:
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
Peds Minimum: 2 mL whole blood from fasting patient in lavender top (EDTA) tube
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.
An interpretive report will be provided.
Only results below the normal range are clinically significant. Elevated values have no clinical significance.
An interpretive report will be provided.
Comments:
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.
Cautions:
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.
Please print, complete, and submit the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the specimen.
Cautions:
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.
Please print, complete, and submit the Informed Consent for Genetic Testing from Mayo Medical Laboratories with the specimen.
Methodology:
Radioisotopic
CPT Code:
82759