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Nation Jewish Health Hyper IgE Syndrome Panel
Test Code678
CPT Codes
81405x1, 88271x55, 88291x1
Includes
DOCK8, SPINK5, STAT3, TYK2
Preferred Specimen
2-5 mL Blood
Instructions
forms required: requsition form, informed consent, test info sheet
Transport Container
Lavender Top Tube
Methodology
Exon Array CGH, Next-gen Sequencing
Report Available
8-10 weeks
Clinical Significance
Hyper-IgE syndromes caused by mutations in the STAT3 and DOCK8 genes are characterized by eczema, sinopulmonary infections and greatly elevated serum IgE. Elevated IgE has also been observed in an individual with TYK2 deficiency and in individuals with Netherton syndrome, a disorder associated with mutations in the SPINK5 gene.