GTR Home > Tests > SLC19A2 sequencing


Test name


SLC19A2 sequencing

Purpose of the test


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



1 condition tested. Click Indication tab for more information.


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

Summary of what is tested

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


Clinical validity


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.

  • 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 Accessed 8 April 2013.

Clinical utility


Not provided

How to order


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:

Test services

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

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