For detection of metabolic disease involved in creatine biosynthesis eg. Guanidinoacetate methyltransferase (GAMT) Deficiency; or creatine transporter deficiency
Department
Specialist Biochemistry
Delphic Registration Code
WMET
Synonyms
Guanidinoacetate
Test Code
4557
Specimen Type
Urine
Specimen Requirements
Tube/Container Type:
Preferred
Pottle
Preferred Sample Volume (ml)
5.0
Paediatric Specimen Requirements
Tube/Container Type:
Preferred
Pottle
Preferred Sample Volume (ml)
0.1
Additional Specimen Information
send random urine sample on ice
Aliquot Instructions
Sample Type
Urine
Minimum Volume (ml)
5.0
Transport to Lab
Frozen
If overnight - Frozen
Additional Referral/Aliquot Information
Please note time of collection and time of freezing on request form
Test Method
Urine Tandem Mass spectrometry screen performed at CHL
