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Laboratory:

Clinical Biochemistry (METABOLIC)

Test Name:

GALACTOSE-1-PHOSPHATE (RBC) - (B)

Test Code: GAL1

Clinical Information:

Test Indications: This test is used for monitor dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase (GALT) or urine diphosphate galactose-4-epimerase (GALE).

This test is NOT appropriate for the diagnosis of galactosemia. The preferred test to evaluate for possible diagnosis of galactosemia, routine carrier screening and follow-up of abnormal newborn screening result (NBS) is Galactosemia Reflex, Blood.

This test is NOT appropriate for the diagnosis of epimerase deficiency (GALE).

Restricted to Manitoba Medical Geneticists for diagnosed patients ONLY.

For questions/help: please communicate with the biochemical geneticist.

Method: Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS) by Mayo Clinic Laboratories.

Recommendations: This test cannot be performed if the patient has received blood transfusion in the last four months.

Patient Preparation Instructions: Specimens collected following a meal can exhibit postprandial elevations.

For infants, collect a specimen immediately prior to next feeding.

Collection Devices:

Preferred Device:	1 - EDTA 4 mL NO GEL Tube(s) - Full Tube Collection EDTA 4 mL NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson & Company Catalogue #: 367861
Alternate Device:	1 - Na Heparin 4mL, NO GEL Tube(s) - Full Tube Collection Na Heparin 4mL, NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dikinson & Company Catalogue #: 367871

Specimen Required:

Whole Blood: 3.0 mL

Pediatric Whole Blood: 2.0 mL

DO NOT FREEZE.
Place tube on wet ice after collection and send immediately to the Metabolic Lab.

Storage: Refrigerated.
Put the sample in the designated area in the refrigerator until a technologist from the Metabolic Lab is available to take care of the sample (washed RBC) and organize the send out.

Unacceptable conditions: Frozen or room temperature specimens

Reject due to: Gross hemolysis

Referral:

The sample needs to be received at HSC the day of collection. See availability section below.

Requisition:

_SH Biochemical Genetics Laboratory Requisition (R250-10-69)

Reference Values:

Normal range: < or = 0.9 mg/dL
Therapeutic range: < or = 4.9 mg/dL

Availability:

Within 3 Weeks

Samples are accepted Monday - Thursday: with no time restriction Friday: sample should be in the lab by 1 pm.