Carbamoyl phosphate synthase


Carbamoyl phosphate synthetase deficiency (urea cycle disorder)


Chemical Pathology - Enzyme

Clinical indications

For the diagnosis of carbamoyl phosphate synthetase defiency (urea cycle disorder), an inherited disorder that causes ammonia to accumulate in the blood

Specimen requirement

Liver biospy

Dispatch and handling instructions

Snap freeze immediately. Send sample on dry ice. Do NOT allow sample to thaw. To reach lab ideally within 24 hours

Turnaround time

6 weeks


Carbamoyl-phosphate synthase deficiency disease, Carbamyl-phosphate synthetase deficiency disease

Is it IS0 15189 accredited?