Urine Hyperoxaluria Panel

Alternate test name

Hyperoxaluria Panel includes Glycolic acid, Oxalic acid and Glyceric acid.

Lab area

Clinical Biochemistry - Metabolic Diseases

Method and equipment

Gas Chromatography - Mass Spectrometry (GC-MS)

Expected turn-around time

4 weeks

Specimen type

Urine

Specimen requirements

1 mL absolute minimum in sterile screw top container

Storage and transportation

Samples may be refrigerated or remain at room temperature for up to 12 hours.

Samples transported from external sites should be frozen (-20°C degrees).

Special requirements

Interfering Substances: Conjugated Bilirubin.

Cautions: Ascorbic acid will falsely increase Oxalic Acid results.

Shipping information

The Hospital for Sick Children

Rapid Response Laboratory

555 University Avenue, Room 3642

Toronto, ON

Canada

M5G 1X8

Phone: 416-813-7200

Toll Free: 1-855-381-3212

Hours: 7 days/week, 24 hours/day

Requisition

Urine Hyperoxaluria Panel - requisition

Background and clinical significance

Primary hyperoxaluria (HP) is an inborn error of oxalate metabolism that results in elevated endogenous oxalate and its metabolites, leading to nephrolithiasis, nephrocalcinosis, and progressive kidney damage.

Primary hyperoxaluria type I (HP1, OMIM #259900) is due to the enzymatic deficiency of alanine-glyoxylate aminotransferase (AGXT) and characterized by the elevations of oxalic acid and glycolic acid in urine and blood.

Primary hyperoxaluria type II (HP2, OMIM #260000) is caused by glyoxylate reductase/hydroxypyruvate reductase (GRHPR) deficiency and characterized by the elevations of oxalic acid and glyceric acid.

Disease condition

This hyperoxaluria panel is used to distinguish HP from secondary hyperoxaluria and to diagnose HP1 and HP2.

This panel does not diagnose primary hyperoxaluria type III (HP3, OMIM #613616), which is due to 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1) deficiency.