Disorders

Autoimmune Polyendocrinopathy Syndrome Type 1

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

Gene	Locus	Protein
AIRE	21q22.3	Autoimmune 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.