Creatine Biosynthesis Disorders Panel, Urine

Creatine Biosynthesis Disorders Panel, Urine

Test Code

94600
82540, 82570, 82542
94600
82540, 82570, 82542
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.

Clinical Significance

Creatine Biosynthesis Disorders Panel, Urine - The intended use for this test is as a means of evaluating patients with a suspected inherited disorder of creatine metabolism. The cerebral creatine deficiency syndromes (CCDS), inborn errors of creatine metabolism, include the two creatine biosynthesis disorders (guanidinoacetate methyltransferase [GAMT] deficiency and L-arginine: glycine amidinotransferase [AGAT or GATM] deficiency), and the X-linked creatine transporter [SLC6A8] deficiency. Intellectual disability and seizures are common to all three CCDS. The majority of individuals with GAMT deficiency have a behavior disorder that can include ...

Test Resources

None found for this test
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Test Details

Includes

  • Guanidinoacetate, Creatine, Creatinine, Creatine/Creatinine

Methodology

Liquid Chromatography/Tandem Mass Spectrometry (LC/MS/MS)

Assay Category

This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range(s)

See Laboratory Report

Alternative Name(s)

Creatine Disorders

LOINC® Codes, Performing Laboratory

Service Area must be determined
Guanidinoacetate, Creatine, Creatinine, Creatine/Creatinine

Methodology

Liquid Chromatography/Tandem Mass Spectrometry (LC/MS/MS)
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Reference Range(s)

See Laboratory Report

Alternative Name(s)

Creatine Disorders
Service Area must be determined

Preferred Specimen(s)

1 mL random urine collected in a sterile cup or tube (including catheter submissions)

Alternative Specimen(s)

24-hour urine

Minimum Volume

0.15 mL

Collection Instructions

Collect a random urine specimen. Immediately freeze specimen. Correct specimen collection and handling is crucial to achieve reliable results.

Transport Container

Sterile plastic urine container

Transport Temperature

Frozen

Specimen Stability

  • Room temperature: Unacceptable
  • Refrigerated: Unacceptable
  • Frozen: 28 days

Reject Criteria

Specimens not frozen immediately after collection

Setup Schedule

Service Area must be determined
1 mL random urine collected in a sterile cup or tube (including catheter submissions)
24-hour urine
0.15 mL
Collect a random urine specimen. Immediately freeze specimen. Correct specimen collection and handling is crucial to achieve reliable results.
Sterile plastic urine container
Frozen
Room temperature: Unacceptable
Refrigerated: Unacceptable
Frozen: 28 days
Specimens not frozen immediately after collection
Service Area must be determined
Not offered in Quest Diagnostics Nichols Institute (IFD) – San Juan Capistrano. Please provide SERVICE AREA INFORMATION to find available tests you can order.
In-home collection is not available in your area through Quest Mobile.
Test Details

Clinical Significance

Test Resources

Reference ranges are provided as general guidance only. To interpret test results use the reference range in the laboratory report.

The CPT codes provided are based on AMA guidance and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

This material contains content from LOINC® (http://loinc.org). The LOINC Table, LOINC Table Core are copyright © 1995-2019, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee and is available at no cost under the license at http://loinc.org/license.

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