Evaluation of neonatal hyperbilirubinemia, favism or chronic or episodic hemolysis or jaundice
Evaluation for gamma-glutamylcysteine synthetase deficiency (OMIM 230450)
Evaluation for glutathione synthetase deficiency causing hemolytic anemia (OMIM 231900)
Evaluation for generalized glutathione synthetase deficiency with 5-oxoprolinuria (OMIM 266130)
> or =12 months: 46.9-90.1 mg/dL RBC. Reference values have not been established for patients who are <12 months of age.
Samples with white blood cell counts greater than 20x10(9)/L have been shown to falsely increase the glutathione level by as much as 25%. Results in the normal or elevated range should be interpreted with caution if high white blood cell count is noted. Recent transfusion may mask the patient's intrinsic enzyme activity and cause unreliable results.
Draw specimen in ACD solution B tube. Send intact whole blood refrigerated.
Test sent to Mayo Clinic Laboratories.