Creatine and Guanidinoacetate Determination - Urine
- 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.: GTR000505881.2
- Last updated: 2019-07-01
- Annual Review past due read more
- 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 Baylor Genetics
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.Creatine and Guanidinoacetate Determination - Urine
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening
Click Indication tab for more information.
For specimen requirements and shipping conditions, please check the test code specific information page. To view the test code specific information page, simply type the test code into the MGL search box found on our home page. Label all specimen tubes with full name and date of birth of the patient. Provide billing information. If we are billing patient insurance, provide a copy of the front and back of the insurance card. For additional information, contact the laboratories at 1-800-411-GENE (4363) or genetictest@bcm.edu.
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.bcm.edu/geneticlabs/index.cfm?PMID=15828
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)
Not provided
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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.