Disorders

MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency

Synonym(s): Allan-Herndon-Dudley Syndrome, Monocarboxylate Transporter 8 Defect

Gene	Locus	Protein
SLC16A2	Xq13.2	Monocarboxylate transporter 8

Laboratory	Test Method	Prenatal	Carrier *
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
InVitae Corporation - San Francisco, CA, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Analyte

^* 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.