Creatine Disorders Panel, S
- GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000613148.2
- Last updated: 2024-05-20
- Test version history
Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Deficiency of guanidinoacetate methyltransferase
Offered by Mayo Clinic Laboratories
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Creatine Disorders Panel, S (CRDPS)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
https://www.mayocliniclabs.com/test-catalog/overview/606131#Specimen
Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.mayocliniclabs.com/order-tests/index.html
Specimen source
Methodology
HelpThe assay's major method category (biochemical, cytogenetic or molecular genetics); method category (i.e. enzyme assay, chromosome breakage studies, targeted mutation analysis); methodology (i.e. the name of the method used) and instruments used when performing this test.- Biochemical Genetics
- AAnalyte
- Liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Establish or confirm diagnosis
- Diagnostic methods and recommendations for the cerebral creatine deficiency syndromes. - PubMed ID: 25521922
- SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations. - PubMed ID: 38531184
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Not provided
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Increased Guanidinoacetate, Guanidinoacetate Methyltransferase Deficiency, 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics Algorithm, GAMT Deficiency: Elevated Guanidinoacetate, 2022
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