Disorders

Autosomal Recessive Hyper IgE Syndrome

Synonym(s): Autosomal Recessive HIES, Autosomal Recessive Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive Hyper-IgE Recurrent Infection Syndrome

OMIM

Gene	Locus	Protein
DOCK8	9p24.3	Dedicator of cytokinesis protein 8

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Sequence analysis of the entire coding region • Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA	• Deletion/duplication analysis
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands	• Sequence analysis of the entire coding region • Deletion/duplication analysis

^* 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.