Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)

Key Information

Lab:

Biochemical

TAT:

14 days

Price:

$200

CPT Code(s):

82542

Test Code:

BCGP

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Creatine Biosynthesis Disorders: Creatine/GAA Analysis (Plasma)

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.

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.

Technical Information

Creatine and guanidinoacetate are measured using tandem mass spectrometry (MS/MS).

Specimen Requirements

Plasma is the accepted sample type for this test. Collect a minimum of 3 mL whole blood in a sodium heparin tube.
Or blood can be centrifuged and a minimum of 1 mL plasma removed and sent for analysis.

Transport Instructions

Plasma should be frozen after collection and shipped frozen, preferably on dry ice.
Whole blood should be shipped at ambient temperature.

Associated Tests

Creatine Transporter Deficiency: Creatine Analysis (Urine)

Connect With Our Experts

Call 1-800-473-9411 to speak with our team of laboratory genetic counselors for questions or additional information.

Robin Fletcher, MS, CGC
Falecia Thomas, MS, CGC
Alex Finley, MS, CGC

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