Disorders

Severe Combined Immune Deficiency, Autosomal Recessive T Cell-Negative, B Cell-Positive, NK Cell-Positive, IL7R-Related

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

Gene	Locus	Protein
IL7R	5p13	Interleukin-7 receptor subunit alpha

Laboratory	Test Method	Prenatal	Carrier *
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Odense University Hospital, Department of Clinical Immunology - Odense C, Denmark	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• 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.