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.