Description
The concentration of the guanidine metabolites present in both urine and plasma help to confirm or exclude disturbances in the guanidine pathway and the transport of creatine. Secondary distubances have also been reported in Duchenne and Becker muscular dystrophy, chronic renal failure, amino acid disorders and orgnaic acidurias.
Also known as
UGAA/GAMT/AGAT
Request a test
To request this test please send sample with a request providing patient ID (three identifiers), specimen information, assay required, relevant clinical details and sender information. Before sending sample please read details on requesting and labelling by clicking on the link. Please also refer to any additional information provided for this test.
Additional information
Plasma sample should be spun and separated within 30 minutes of collection. Samples should be stored frozen at �20�C until analysis.
Sending address
Chemical Pathology Reception
Level 1, Camelia Botnar Building
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH
Laboratory service
Chemical Pathology
Sample requirements
0.5ml Lithium Heparin plasma with 2ml fresh random urine in a plain universal container.
Reference range
Please click on the link to view reference range
Turnaround time
4 weeks
Disease / group
Guanidinoacetate methyl tranferase deficieny, Creatine transporter deficieny, and Arginine:glycinea amidino tranferase deficieny.
Cost
Upon request
Call in advance?
Not required