Creatine Disorders Panel, urine
Creatine/Guanidinoacetate Panel, GAA
1 mL of urine in sterile screw top container.
- Store at -20°C and transport frozen on dry ice.
- Freeze within 1 hour of collection, analytes are unstable.
Diagnosis of disorders of creatine metabolism
Creatine metabolism disorders,
Creatine Synthesis and Transport disorders - AGAT deficiency,
GAMT deficiency, Creatine transporter deficiency.
Secondary creatine synthesis disorders - e.g. OAT deficiency.
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