Disorders


 

AMT-Related Glycine Encephalopathy


 

OMIM

GeneLocusProtein
AMT3p21.2-p21.1Aminomethyltransferase, mitochondrial

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
BC Children's and BC Women's Hospitals, Molecular Genetics Laboratory - Vancouver, Canada• Sequence analysis of the entire coding region
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
 
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France• Sequence analysis of the entire coding region
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
 
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands• Sequence analysis of the entire coding region

* 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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