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GTR Home > Tests > SLC37A4 Mutation Analysis for GSD 1b


Test order codeHelp: SLC37A4

Test name


SLC37A4 Mutation Analysis for GSD 1b (SLC37A4)

Purpose of the test


This is a clinical test intended for Help: Diagnosis



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How to order


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 Help: http://www.dukemolecular.org/

Specimen source

Cell culture
Peripheral (whole) blood
Specimen requirements: http://www.dukemolecular.org/


Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3130xl

Summary of what is tested

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Clinical utility


Not provided

Clinical validity


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.


Not provided

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