Disorders


 

Severe Combined Immune Deficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative, JAK3-Related


Synonym(s): SCID, Autosomal Recessive, T-B+NK- SCID

 

OMIM

GeneLocusProtein
JAK319p13-p12Tyrosine-protein kinase JAK3

Laboratory Test Method Prenatal Carrier *
GeneDx - Gaithersburg, MD, USA  
Oslo University Hospital HF - Ullevaal, Department of Medical Genetics - Unit for Cardiac and Cardiavasular Genetics - Oslo, Norway  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  

* 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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