Hyper IgE syndrome

Genes (full coding region): CARD11, ERBIN (ERBB2IP), IL6R, IL6ST, PGM3, SPINK5, STAT3, TGFBR1, TGFBR2, ZNF341
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

 

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
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