NAGS Deletion/Duplication Analysis

Clinical Use

Use

The NAGS Deletion/Duplication Analysis is crucial for identifying pathogenic deletions and duplications linked to N-acetylglutamate synthase deficiency (NAGSD), an inherited urea cycle disorder. This condition disrupts the body's ability to degrade certain proteins, leading to harmful ammonia accumulation. Symptoms can manifest at different life stages, presenting as lethargy, developmental delays, or crisis episodes that could induce coma. This analysis is indicated for symptomatic patients, newborns with positive screenings, or those with familial history of NAGS-related disorders. Proper diagnosis aids in treatment, which may include dietary management and medical supervision.

Special Instructions

This test code is intended solely as a reflex test to UCD and Hyperammonemia Panel by Massively Parallel Sequencing (test code 2110).

Limitations

While this analysis focuses on the NAGS gene, it may not identify all variants that can be responsible for NAGSD. False negatives can occur if deletions/duplications are outside the tested regions. Interpreter’s caution is advised in the presence of a clinical phenotype consistent with NAGSD despite negative results. Always consider the full clinical context and additional genetic testing if clinical symptoms persist or if further evaluation is needed.

Test Details