SLC25A13 Deletion/Duplication Analysis

Clinical Use

Use

The SLC25A13 Deletion/Duplication Analysis aims to identify pathogenic deletions and duplications associated with citrullinemia type II, a genetic disorder that can lead to severe health issues due to toxic substance buildup in the body. This inherited disorder primarily arises from biallelic pathogenic variants in the SLC25A13 gene, with onset typically during adolescence or adulthood. Symptoms can include alarming spikes in ammonia levels, potentially triggered by diet or medications, leading to behaviors like restlessness, seizures, or even coma. Patients may also suffer from related liver dysfunction as infants. The disorder's treatment usually centers on dietary modifications and medical management, underscoring the importance of early testing for at-risk individuals.

Special Instructions

This test code is intended exclusively as a reflex testing opportunity to complement the UCD and Hyperammonemia Panel, utilizing Massively Parallel Sequencing (test code 2110).

Limitations

This analysis is dependent on sample quality and the presence of sufficient genetic material. If appropriate deletions or duplications are not identified, further testing or alternative approaches may be required. The interpretation of results can vary based on availability of clinical data and family history. Testing may also not detect all rare mutations or variants. Consequently, negative results do not completely rule out the presence of SLC25A13-related disorders. Genetic counseling is recommended to understand the implications of findings in a clinical context.

Test Details