Combined immunodeficiency

Genes (full coding region): ADA, AK2, B2M, BCL10, CARD11, CD247, CD3D, CD3E, CD3G, CD3Z, CD40, CD40LG, CD8A, CHD7, CHUK, CIITA, COPG1, CORO1A, DCLRE1C, DOCK2, DOCK8, FCHO1, FOXN1, ICOS, ICOSLG, IKBKB, IKZF1, IKZF2, IL2RG, IL21, IL21R, IL7R, IRAK4, ITK, ITPKB, JAK3, LAT, LCK, LIG4, LPC2, MALT1, MAN2B2, MAP3K14, MSN, MTHFD1, MYD88, NBS1, NHEJ1, ORAI1, PAX1, PCFT, PGM3, PNP, POLD1, POLD2, PRKDC, PTPRC, RAC2, RAG1, RAG2, REL, RELA, RELB, RFX5, RFXANK (RFX-B), RFXAP, RHOH, SASH3, STIM1, STK4, ZAP70, TAP1, TAP2, TAPBP, TBX1, TFRC, TIRAP, TLR7, TLR8, TNFRSF4, TRAC, TTC7A, UNC119
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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