Disorders

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

Synonym(s): Alpha Thalassemia/Mental Retardation, X-Linked, Alpha-Thalassemia X-Linked Mental Retardation Syndrome, ATRX Syndrome, XLMR-Hypotonic Face Syndrome

GeneReview OMIM

Gene	Locus	Protein
ATRX	Xq21.1	Transcriptional regulator ATRX

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics, Inc - Cambridge, MA, USA
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Sequence analysis of select exons
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA	• Sequence analysis of select exons
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• Sequence analysis of select exons
University of Oxford, MRC Molecular Haematology Unit - Oxford, Great Britain	• Mutation scanning of the entire coding region • Targeted mutation analysis
University of Turku, Diagnostic DNA Laboratory - Turku, Finland	• Sequence analysis of select exons

^* 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.