Disorders

Guanidinoacetate Methyltransferase Deficiency

Synonym(s): GAMT Deficiency

Gene	Locus	Protein
GAMT	19p13.3	Guanidinoacetate N-methyltransferase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
CeGaT GmbH - Tuebingen, Germany
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
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
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA	• Analyte
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands	• Analyte • Enzyme assay
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, 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.