Plasma Creatine Guanidinoacetate
Test Code
Clinical Significance
Plasma Creatine Guanidinoacetate - This test is designed to assess abnormalities in the synthesis of creatine. Three disorders in the synthesis and transport of creatine have been recognized recently. Guanidinoacetate methyltransferase (GAMT) deficiency was the first inborn error of creatine biosynthesis in man. More recently, arginine: Glycine amidinotransferase (AGAT) and creatine transporter deficiencies have been reported. GAMT deficiency results in creatine and creatine phosphate deficiency and leads to an elevation of guanidinoacetate in physiological fluids. The other disorders may also lead to alterations in the levels of ...
Test Resources
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Test Details
Methodology
Reference Range(s)
Preferred Specimen(s)
1 mL plasma collected in a sodium heparin (green-top) tube
Collection Instructions
Draw blood in sodium Heparin (green-top) tube(s) and separate as soon as possible. Send 1-2 cc of plasma. Store the specimen frozen at -20° C. Specimen may be stored frozen for up to 7 days.
Transport Container
Transport tube
Transport Temperature
Frozen
Specimen Stability
- Room temperature: Not acceptable
- Refrigerated: Not acceptable
Reject Criteria
Received room temperature • Received refrigerated
Setup Schedule
Refrigerated: Not acceptable