Guanidinoacetate and creatine, plasma
Clinical Background:
For investigation of suspected metabolic disorders of creatine synthesis or transport including guanidinoacetate methyltranferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) defic...
For investigation of suspected metabolic disorders of creatine synthesis or transport including guanidinoacetate methyltranferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) deficiency and creatine transporter deficiency. Plasma guanidinoacetate is also used in monitoring patients with these disorders.
N.B: to investigate the X-linked creatine transport defect, a urine sample is required for measurement of creatine/creatinine ratio.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
Lithium heparin plasma
Serum
Lithium heparin plasma
Serum
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Specimen Container Paediatric:
Lithium heparin plasma
Serum
Lithium heparin plasma
Serum
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Minimum Volume Adult:
0.5 mL
0.5 mL
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Minimum Volume Paediatric:
0.5 mL
0.5 mL
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Sample Stability:
Guanidinoacetate and creatine are stable in plasma at ambient temperature for at least 2 weeks.
Guanidinoacetate and creatine are stable in plasma at ambient temperature for at least 2 weeks.
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Transport Requirements:
Send to laboratory at ambient temperature.
Send to laboratory at ambient temperature.
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Reference Ranges:
Creatine Age ≤ 10 years 41 – 115 µmol/L
Age > 10 years 8 – 89 µmol/L
Guanidinoacetate Age ≤ 10 years ...
Read MoreCreatine Age ≤ 10 years 41 – 115 µmol/L
Age > 10 years 8 – 89 µmol/L
Guanidinoacetate Age ≤ 10 years 0.55 – 2.36
Age > 10 years 0.85 – 3.31
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: