Disorders

Chronic Granulomatous Disease, X-linked

Gene	Locus	Protein
CYBB	Xp21.1	Cytochrome b-245 heavy chain

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Mutation scanning of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
GGA - Galil Genetic Analysis - Kazerin, Israel
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark
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.