UCD and Hyperammonemia Panel by Massively Parallel Sequencing

Clinical Use

Use

The UCD and Hyperammonemia Panel assesses 8 genes associated with disorders affecting urea cycle function and hyperammonemia. These conditions can lead to dangerously elevated levels of ammonia in the body, particularly impacting young children. During metabolic crises, symptoms may present as irritability, feeding difficulties, and lethargy. Untreated, episodes can lead to seizures, respiratory issues, intellectual disabilities, vision impairment, coma, or may be life-threatening. This genetic evaluation helps identify those at risk and informs necessary interventions to mitigate potential health crises.

Special Instructions

Testing is recommended for individuals diagnosed with urea cycle disorders or under suspicion for these conditions. Healthcare professionals should collect the samples, specifically for Buccal Swabs, to ensure accuracy and prevent contamination. This panel includes the possibility of reflex testing for additional gene duplications or deletions, which may warrant further analysis to clarify or confirm the diagnosis.

Limitations

The panel only assesses 8 genes, which may not cover all potential genetic causes of hyperammonemia or urea cycle disorders. Variants of uncertain significance may be detected, and not all potential mutations will be identified. For complete diagnostic clarity, clinical correlation and possibly additional testing may be necessary. The effectiveness of management and therapy will depend on timely diagnosis and treatment, hence prolonged symptomatology might necessitate further genetic evaluation.

Test Details

New York Approved