Disorders

Thiamine-Responsive Megaloblastic Anemia Syndrome

Synonym(s): Rogers Syndrome, Thiamine-responsive myelodysplasia, TRMA

Gene	Locus	Protein
SLC19A2	1q23.3	Thiamine transporter 1

Laboratory	Test Method	Prenatal	Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.