Hyperammonemia Panel
Use
The Hyperammonemia Panel is intended for individuals who exhibit hyperammonemia, including primary or secondary cases, or adults with unexplained encephalopathy, after ruling out external causes like infection or hepatic failure. Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia in the blood, often leading to various serious neurological conditions or liver dysfunction.
Special Instructions
The Hyperammonemia Panel utilizes NGS with CNV (Exome or Genome Platform) to provide comprehensive analysis. This test is New York approved, and additional options include STAT testing and Exome-Wide CNV Analysis for more comprehensive results. Ensure specimens are collected and stored as per guidelines to avoid sample rejection.
Limitations
As with all genetic testing, the Hyperammonemia Panel may not detect all genetic changes that could contribute to hyperammonemia. Limitations include potential unidentified genetic variations outside of the targeted 63 genes, CNV detection sensitivity, and technical constraints of NGS technology. Variants of unknown significance may complicate the clinical interpretation.
New York Approved
Methodology
NGS (CGP)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided