Disorders


 

Myoadenylate Deaminase Deficiency


Synonym(s): Adenosine Monophosphate Deaminase 1, AMPD1, Exercise-Induced Myopathy, MADA Deficiency

 

OMIM

GeneLocusProtein
AMPD11p13AMP deaminase 1

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Enzyme assay
  
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA• Targeted mutation analysis
• Enzyme assay
  
Centogene AG, Rare Disease Company - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Targeted mutation analysis
  
Medgene, MedGene - Bratislava, Slovakia  
Medical Neurogenetics - Atlanta, GA, USA  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany• Targeted mutation analysis
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  

* 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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