Disorders


 

Adenosine Deaminase Deficiency


Synonym(s): ADA Deficiency

 

GeneReviewOMIM

GeneLocusProtein
ADA20q13.12Adenosine deaminase

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
• Enzyme assay
  
CGC Genetics - Porto, Portugal  
Duke University Medical Center, Purine Metabolic and Immunodeficiency Lab - Durham, NC, USA• Analyte
• Enzyme assay
  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
GeneDx - Gaithersburg, MD, USA  
Mayo Clinic, Metabolic Hematology Laboratory - Rochester, MN, USA• Enzyme assay
  
Shafallah Medical Genetics Center, SMGC Laboratory - Doha, Qatar  

* 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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