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Creatine Disorders Panel, urine

Alternate test name

Creatine/Guanidinoacetate Panel, GAA

Lab area
Clinical Biochemistry - Metabolic Diseases
Method and equipment
Quantitation using non-derivatized method, measurement using LC-MS/MS.
Expected turn-around time
30 days
Specimen type

Random Urine

Specimen requirements

1 mL of urine in sterile screw top container.

Storage and transportation
  • Store at -20°C and transport frozen on dry ice.
Special requirements
  • Freeze within 1 hour of collection, analytes are unstable.
Shipping information
The Hospital for Sick Children
Rapid Response Laboratory
555 University Avenue, Room 3642
Toronto, ON
M5G 1X8
Phone: 416-813-7200
Toll Free: 1-855-381-3212
Hours: 7 days/week, 24 hours/day
Background and clinical significance

Diagnosis of disorders of creatine metabolism

Disease condition

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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