Urea Cycle Disorders Panel

Clinical Use

Use

This test is designed for individuals with relevant clinical features indicative of urea cycle disorders or those with plasma ammonia levels ≥150 μmol/L along with a normal anion gap and plasma glucose concentration. It helps in confirming a clinical or suspected diagnosis of urea cycle disorders by analyzing nine specific genes relevant to these disorders.

Special Instructions

Not provided.

Limitations

The test has not been cleared or approved by the US Food and Drug Administration. It should be noted that while the NGS platform covers a range of genetic variations, not all may be detectable depending on the nature and context of the genetic anomaly.

Test Details

New York Approved