https://www.gosh.nhs.uk/wards-and-departments/departments/laboratory-medicine/laboratory-database/arginase/

Arginase

EPIC

Arginase deficiency (urea cycle disorder)

Section

Chemical Pathology - Enzyme

Clinical indications

For the diagnosis of arginase deficiency (urea cycle disorder), an inherited disorder that causes the amino acid arginine and ammonia to accumulate in the blood

Specimen requirement

1. 5 - 10 mL lithium heparin whole blood or

2. Liver biopsy

Dispatch and handling instructions

1. Send whole blood at ambient room temperature to reach the lab ideally within 24 hours of collection

2. Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

Turnaround time

1. 4 to 6 weeks

2. 4 to 6 weeks

Synonym

ARG1 deficiency, Arginase deficiency disease, Argininemia