Hereditary autoinflammatory syndrome

Genes (full coding region): ADAM17, ALPI, CARD14, COPA, C2orf69, HAVCR2, HCK, IKBKG, IL1RN, IL36RN, LPIN1, MEFV, MVK, NCKAP1L, NLRC4, NLRP1, NLRP3, NLRP12, NOD2, OTULIN, PLCG2, PSMB8, PSMB9, PSMG2, PSTPIP1, RIPK1, SH3BP2, SLC29A3, SYK, TBK1, TNFAIP3, TNFRSF1A, TRIM22
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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