https://www.gosh.nhs.uk/wards-and-departments/departments/laboratory-medicine/laboratory-database/ornithine-carbamoyl-transferase/

Ornithine carbamoyl transferase

Ornithine transcarbamylase deficiency (urea cycle disorder)

Chemical Pathology - Enzyme

For the diagnosis of ornithine transcarbamylase deficiency, an inherited disorder that causes ammonia to accumulate in the blood

Liver biospy

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