CPS1 Deletion/Duplication Analysis

Clinical Use

Use

The CPS1 Deletion/Duplication Analysis is performed to identify pathogenic deletions and duplications associated with carbamoyl phosphate synthetase I deficiency. This condition is characterized by the toxic accumulation of ammonia in the blood, which can lead to serious health complications such as lethargy, feeding refusal, seizures, and potential brain damage if untreated. Testing is indicated for patients suspected of having CPS1-related disorders, including symptomatic individuals with a family history or positive newborn screen. Inheritance of CPS1 deficiency follows an autosomal recessive pattern, meaning both parents must be carriers for there to be a risk of having an affected child.

Special Instructions

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

Limitations

The analysis may not capture all pathogenic variants in the CPS1 gene. Particular attention should be given to the clinical context when interpreting results, as not all individuals with CPS1 deficiency will show deletions or duplications detectable by this methodology. Variability in presentation and the timing of symptoms can lead to challenges in diagnosis. Further testing may be necessary in cases of inconclusive results.

Test Details