SLC25A15 Deletion/Duplication Analysis

Clinical Use

Use

The SLC25A15 Deletion/Duplication Analysis is performed to identify pathogenic deletions and duplications associated with hyperornithinemia-hyperammonemia-homocitrullinuria. This condition, also known as ornithine translocase deficiency, leads to toxic ammonia accumulation due to enzyme deficiency. Severity varies, but onset can occur in infancy with severe outcomes. Symptoms include energy deficiency, vomiting, seizures, and coordination issues, often triggered by high-protein diets. Untreated cases may lead to developmental challenges. Clinical management focuses on dietary restrictions and lifelong medical monitoring, enhancing growth and quality of life for affected individuals.

Special Instructions

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

Limitations

The analysis may not detect all pathogenic variants, and consent from individuals is required before testing. Findings should be interpreted in the context of clinical symptoms and family history. Additionally, false negatives or inconclusive results may occur, especially if the sample quality is compromised. Patients should be informed that results potentially affect their management and may have implications for family members.

Test Details