Disorders


 

Guanidinoacetate Methyltransferase Deficiency


Synonym(s): GAMT Deficiency

 

OMIM

GeneLocusProtein
GAMT19p13.3Guanidinoacetate 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• Sequence analysis of the entire coding region
• Analyte
• Deletion/duplication analysis
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Analyte
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
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• 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
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• 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.

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