For detection of metabolic disease involved in creatine biosynthesis e.g., Guanidinoacetate methyltransferase (GAMT) Deficiency; or creatine transporter deficiency.
Department
Specialist Biochemistry
Delphic Registration Code
WMET
Synonyms
Guanidinoacetate
Turnaround Time
3 weeks
Test Code
4550
Specimen Type
Urine
Specimen Requirements
Tube/Container Type:
Preferred
BD Urine Tube (no additive)
Acceptable
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
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.
