Disorders


 

SLC6A8-Related Creatine Transporter Deficiency


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

 

OMIM

GeneLocusProtein
SLC6A8Xq28Sodium- 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• Sequence analysis of the entire coding region
• Analyte
Center for Human Genetics, Inc - Cambridge, MA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Analyte
• Deletion/duplication analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA• Sequence analysis of the entire coding region
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• Sequence analysis of the entire coding region
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Sequence analysis of the entire coding region
• 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 Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
• Analyte
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA• Analyte
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland• Sequence analysis of the entire coding region
 
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
• Deletion/duplication analysis

* 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.

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