Arginase Enzyme Analysis

Clinical Use

Use

This test provides enzymatic analysis of arginase. Pathogenic variants in ARG1 are associated with arginase deficiency, a urea cycle disorder characterized by deficiency of the enzyme arginase, leading to episodic hyperammonemia that can be life threatening. Symptoms may vary in onset. Untreated individuals may exhibit slowed linear growth, spasticity, stalled cognitive development, and eventual loss of developmental milestones. These may progress to severe spasticity, loss of ambulation, and significant intellectual disability. This assay is for diagnosing symptomatic individuals and should not be used for carrier screening. Indications for this testing include suspected arginase deficiency or positive newborn screening results.

Special Instructions

This test is ordered for individuals suspected of having arginase deficiency based on clinical signs. Proper specimen collection is crucial for accurate results; the sample must be sent in an ACD yellow-top tube. Ensure timely shipping at room temperature and avoid exposure to freezing to maintain sample integrity. The assay cannot be utilized for carrier screening purposes.

Limitations

This assay is not intended for carrier screening. It cannot definitively rule out the presence of disease due to mutations not detected by the test. Results may vary depending on sample handling and individual patient factors. False negatives or positives can occur, and confirmatory testing may be necessary to establish a diagnosis definitively.

Test Details

New York Approved