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Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)

Test Information

Creatine biosynthesis disorders can be separated based on plasma testing for guanidinoacetate (GAA) and creatine. Patients with AGAT deficiency show a low plasma GAA level while patients with GAMT have an elevated GAA level.

Turnaround Time

2 weeks

CPT Code(s)

82542

Cost

$200

Clinical Information

Both AGAT and GAMT are autosomal recessive disorders and are characterized by intellectual disability, speech delay and epilepsy. GAMT deficiency can also present with a dystonic hyperkinetic movement disorder.

Methodology

tandem mass spectrometry (MS-MS)

Associated Tests

Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Urine)

Specimen Requirements

At least 500ul of plasma is requested for the analysis.

Transport Instructions

Whole blood should be shipped overnight at ambient temperature. Or, the specimen can be spun down, plasma removed and frozen. Frozen plasma should be shipped overnight on dry ice.

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Have Questions? Need Support?

Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance.
Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC