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JAK3 Severe Combined Immunodeficiency, Autosomal Recessive (JAK3 SCID) Severe Combined Immunodeficiency, JAK3 type
JAK3 (Janus Kinase 3)
Mutations in several different genes can cause severe combined immune deficiency (SCID). Patients present in infancy with persistent severe viral, bacterial, protozoal or fungal infections, poor wound healing and failure to thrive. T-cell lymphopenia is characteristic of all forms of SCID, but the presence of B cells and NK cells is variable depending on the genes involved.
Two genes that often have a circulating lymphocyte profile described as T- B+ NK- are the IL2RG gene in X-linked SCID and the JAK3 gene in autosomal recessive SCID. This lymphocyte profile is distinct from the T- B- NK+ profile often seen with RAG or DCLRE1C gene mutations. A third profile, T-B-NK-, is associated with SCID caused by adenosine deaminase (ADA) deficiency.
Analysis is performed by bi-directional sequencing of the coding regions and splice sites of the 23 exons of the JAK3 gene. New in 2009, if sequencing identifies a mutation on only one allele, focused array CGH analysis with exon-level resolution (ExonArrayDx) will be performed to evaluate for a deletion or duplication of one or more exons of this gene. For more details see the linked Information Sheet below.
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
JAK3, JAK, Janus Kinase, SCID, Immunodeficiency, immuno-deficiency, T-cell, natural killer, B-cell, Severe combined, severe combined immunodeficiency, X-linked SCID
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