Disorders


 

Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome b-Positive, Type I


 

OMIM

GeneLocusProtein
NCF17q11.23Neutrophil cytosol factor 1

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Targeted mutation analysis
 
GeneDx - Gaithersburg, MD, USA• Targeted mutation analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark• 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.

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