SLC37A4 Mutation Analysis for GSD 1b
- 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.: GTR000331790.1
- Last updated: 2023-03-08
- Test version history
- 331790.1, last updated: 2023-03-08
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 Glucose-6-phosphate transport defect
Offered by Molecular Diagnostics Laboratory
Overview
Test name
HelpThe name the laboratory assigns the test. Used as the default title of the page specific to the test.SLC37A4 Mutation Analysis for GSD 1b (SLC37A4)
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
Click Indication tab for more information.
Specimen Type
Whole Blood (EDTA)
Container & Volume
Age Group Container Volume
0 - = 18 Years LAVENDER TOP TUBE 2 ML
Label Reminders
Be sure to include patient's name, history #, date and time of collection, and collector's initials.
Collection Notes
All: Peripheral Blood: One lavender-top EDTA tube (minimum of 3 mls) is required for testing. Forward unprocessed peripheral blood promptly to the laboratory at ambient temperatures. THE SPECIMEN CANNOT BE FROZEN. GREEN-TOP (HEPARIN) TUBES ARE NOT ACCEPTABLE FOR TESTING.
Amniocytes: 2-4ml of amniotic fluid is required. Forward promptly at ambient temperature only. Contact the Laboratory for additional information and instructions on sample requirements and shipping instructions. SPECIMEN CANNOT BE FROZEN.
Cultured amniocytes / fibroblasts: Please contact the Laboratory for sample requirements and shipping instructions.
Transport
Please deliver to lab at ambient temperature. If there is a delay of more than 24 hours in delivery, please refrigerate the sample. DO NOT FREEZE!
Turn Around Time - Routine: 14-28 days Stat: N/A
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.: http://www.dukemolecular.org/
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.- Molecular Genetics
- CSequence analysis of the entire coding region
- Bi-directional Sanger Sequence Analysis
- Applied Biosystems 3130xl
Not provided
Clinical validity
HelpHow consistently and accurately the test detects or predicts the intermediate or final outcomes of interest. Lab-provided.Mutations in the SLC37A4 gene account for approximately 20% of all cases of GSDI cases (including GSD1a and GSD1b). Sequence analysis of the SLC37A4 gene detects approximately 94% of all SLC37A4 mutations that cause GSD1b. Therefore, the probability that no mutations in SLC37A4 are detected an individual with GSD1b is less than 1%. These results are not intended to be used as sole criteria for clinical diagnosis or patient management decisions and are not a substitute for a physician's judgment and clinical experience. Correlation with other laboratory testing or clinical findings is required.
Citations
Not provided
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