Disorders


 

Autoimmune Polyendocrinopathy Syndrome Type 1


Synonym(s): APS1, Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

 

OMIM

GeneLocusProtein
AIRE21q22.3Autoimmune regulator

Laboratory Test Method Prenatal Carrier *
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark  
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany  
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Targeted mutation analysis
  
Endokrinologikum Hamburg - Center for Hormonal and Metabolic Diseases, Prenatal, and Reproductive Medicine, Molecular Diagnostics - Hamburg, Germany  
GeneDx - Gaithersburg, MD, USA• Sequence analysis of select exons
  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Haukeland University Hospital, Center for Medical Genetics and Molecular Medicine - Bergen, Norway  
HUSLAB, Laboratory of Genetics - Helsinki, Finland• Targeted mutation analysis
  
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  

* 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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