ARG1 Deletion/Duplication Analysis

Clinical Use

Use

The ARG1 Deletion/Duplication Analysis identifies pathogenic deletions and duplications linked to argininemia, a urea cycle disorder caused by arginine accumulation. Symptoms can arise from early childhood, featuring a variable onset that may include diminished growth, spasticity, cognitive decline, and severe intellectual disabilities. An affected child has a 1 in 4 chance of receiving two pathogenic variants from carrier parents. This reflects the importance of testing symptomatic individuals or those with a family history of ARG1-related disorders, facilitating early diagnosis and management to improve life quality despite the lack of a cure for the condition.

Special Instructions

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

Limitations

Interpretation of some genomic variations may be challenging, and additional tests might be necessary to understand the full clinical context. Variants of uncertain significance (VUS) may be detected, which do not directly influence the diagnosis but may necessitate further investigation. Incorrect environmental conditions during shipping can affect specimen integrity, impacting test results. Not all pathogenic variants are detectable, and the test may not detect all possible genetic causes of argininemia.

Test Details