Guanidinoacetate (& Creatine)

Test information: This tests is used in the investigation of creatine biosynthesis disorders; Guanidinoacetate methyltransferase (GAMT) deficiency, arginine:glycine amidinotransferase (AGAT) deficiency and x-linked creatine transporter defect (SLC6A8). Guanidinoacetate (GAA)is a precursor to creatine, and is measured alone with creatine in blood and urine samples.

For initial investigations paired urine and plasma must be sent. For monitoring of known GAMT or AGAT deficiency patients only a plasma sample is required.

Specimen Type(s)

• Blood;
• Urine;

Other Acceptable Specimen Type(s)

For initial investigations paired urine and plasma should be sent. For monitoring of known GAMT or AGAT deficiency patients only a plasma sample is required.

Specimen Container - Adult

• Green Top BD;
• Plain Universal;

Specimen Container - Paediatric

• Light Green Top Microtainer BD;
• Plain Universal;

Analytes

• N/A;

Part of a test profile?

N/A

Volume (min) of sample to be sent to laboratory

1ml urine and 1 ml blood

Patient Preparation, Sample Handling and Transport

Please provide clinical details on if investing a new patient vs monitoring. Urine sample must be immediately delivered to the laboratory for prompt freezing. Blood sample is more stable, however, if paired with a urine please send to the laboratory at the same time.

Maximum add on time

N/A

Units and Reference Ranges / Interpretation

Please see the report.

UKAS number

8492

UKAS accredited test?

Yes

Comments

N/A

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