GTR Home > Tests > SLC19A2 sequencing

Overview

Test name

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SLC19A2 sequencing

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what tested

1 genes and variants. Click Methodology tab for more information.

Genes and variants

Clinical validity

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Homozygous or compounded heterozygous mutations in the SLC19A2 gene are associated with TRMA. SLC19A2 encodes a high-affinity thiamine transporter, and studies on the fibroblasts of affected individuals have shown that absence of this transporter protein results in low intracellular thiamine levels. The mechanism by which absence of this protein leads to the divergent symptoms associated with TRMA remains unknown.

Citations
  • Shaw-Smith C et al. Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine responsive megaloblasic anemia. Pediatr Diabetes 13: 314-21, 2012. Oishi K and Diaz G (2012) Thiamine-Responsive Megaloblastic Anemia Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle. 1997-2013. Available at http://www.genetests.org. Accessed 8 April 2013.

Clinical utility

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Establish or confirm diagnosis

Citations
  • Shaw-Smith C et al. Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine responsive megaloblasic anemia. Pediatr Diabetes 13: 314-21, 2012. Oishi K and Diaz G (2012) Thiamine-Responsive Megaloblastic Anemia Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource. Copyright, University of Washington, Seattle. 1997-2013. Available at http://www.genetests.org. Accessed 8 April 2013.

How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

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.

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