Severe Combined Immunodeficiency NGS panel

Genes
(full coding
region):		 ADA, AK2, CARD11, CD247, CD40, CD8A, CD3D, CD3E, CD3G, CD40LG, CIITA, CORO1A, DCLRE1C, DOCK8, FOXN1, IKBKB, IL7R, IL2RA, IL2RG, JAK3, LCK, LIG4, MALT1, MTHFD1, NHEJ1, ORAI1, PGM3, PNP, PRKDC, PTPRC, RAC2, RAG1, RAG2, RFX5, RFXANK, RFXAP, RMRP, SLC46A1, STAT5B, STIM1, TBX1, TTC7A, UNC119, ZAP70

List of diseases covered by the panel
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.
Ordering information: Go to online ordering or download sample submission form