Disorders

Myoadenylate Deaminase Deficiency

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

Gene	Locus	Protein
AMPD1	1p13	AMP 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.