Disorders

SLC6A8-Related Creatine Transporter Deficiency

Synonym(s): Mental Retardation, X-Linked, with Creatine Transport Deficiency, SLC6A8 Deficiency

Gene	Locus	Protein
SLC6A8	Xq28	Sodium- and chloride-dependent creatine transporter 1

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte • Enzyme assay
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
Center for Human Genetics, Inc - Cambridge, MA, USA
Centogene AG, Rare Disease Company - Rostock, Germany	• Analyte
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Analyte
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte
Kennedy Krieger Institute, Biochemical Genetics Laboratory - Baltimore, MD, USA	• Analyte
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Medical Neurogenetics - Atlanta, GA, USA	• Analyte
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA	• Analyte
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands	• Analyte • Enzyme assay

^* 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.