Synonym(s): Autoimmunity-Immunodeficiency Syndrome, X-Linked, Immunodeficiency, Polyendocrinopathy, and Enteropathy, X-Linked Syndrome, X-Linked Autoimmunity-Allergic Dysregulation Syndrome (XLAAD), X-Linked Syndrome of Polyendocrinopathy, Immune Dysfunction and Diarrhea (XPID)

GeneReviewOMIM

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany	• Sequence analysis of the entire coding region
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Sequence analysis of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Sequence analysis of the entire coding region • Protein expression
GENETIX Centro de Investigación en Genética Humana y Reproductiva - Bogota, Colombia	• Sequence analysis of the entire coding region
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• Sequence analysis of the entire coding region
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA	• Sequence analysis of the entire coding region • Protein expression
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA	• Sequence analysis of the entire coding region

^* 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.