Test Code: PNL145

Immunodeficiency, primary (313 Genes)

Rare Disease
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
3 weeks days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing

Genes Analyzed

313 genes
ADA ADA2 ADAM17 ADAR AICDA AIRE AK2 AP1S3 AP3B1 AP3D1 ARHGEF1 ARPC1B ARPC5 ATM ATP6AP1 B2M BACH2 BCL10 BCL11B BLNK BTK C1QA C1QB C1QC C1R C1S C2 C2orf69 C3 C5 C6 C7 C8A C8B CARD11 CARD14 CARD9 CARMIL2 CASP10 CASP8 CBLB CD19 CD247 CD27 CD3D CD3E CD3G CD40 CD40LG CD55 CD70 CD79A CD79B CD81 CD8A CDC42 CEBPE CFD CFH CFI CFP CHD7 CIITA CLPB COPA CORO1A CR2 CSF3R CTLA4 CTNNBL1 CTPS1 CXCR2 CXCR4 CYBA CYBB CYBC1 DBR1 DCLRE1C DEF6 DNAJC21 DNASE1L3 DNASE2 DOCK2 DOCK8 DPP9 EFL1 ELANE ELF4 ERBIN F12 FADD FAS FASLG FCHO1 FCN3 FNIP1 FOXI3 FOXN1 FOXP3 G6PC3 G6PD GATA2 GFI1 GINS1 GUCY2C HAVCR2 HAX1 HCK ICOS ICOSLG IFIH1 IFNAR1 IFNAR2 IFNG IFNGR1 IFNGR2 IGLL1 IKBKB IKZF1 IKZF2 IL10 IL10RA IL10RB IL12B IL12RB1 IL17F IL17RA IL17RC IL1RN IL21 IL21R IL23R IL2RA IL2RB IL2RG IL36RN IL6R IL6ST IL7R IRF1 IRF2BP2 IRF3 IRF4 IRF7 IRF8 IRF9 ISG15 ITK JAGN1 JAK1 JAK3 KRAS LACC1 LAMTOR2 LAT LCK LCP2 LIG1 LIG4 LIPA LPIN2 LRBA LSM11 LYN LYST MAGT1 MALT1 MAP3K14 MCM10 MCM4 MCTS1 MEFV MOGS MS4A1 MSN MTHFD1 MVK NCF1 NCF2 NCF4 NCKAP1L NFKB1 NFKB2 NFKBIA NHEJ1 NLRC4 NLRP1 NLRP12 NLRP3 NOD2 NRAS OAS1 ORAI1 OTULIN PAX1 PGM3 PIK3CD PIK3CG PIK3R1 PLCG2 PNP POLA1 POLR3A POLR3F POMP PRF1 PRKCD PRKDC PSMA3 PSMB10 PSMB4 PSMB8 PSMB9 PSMG2 PSTPIP1 PTEN PTPRC RAB27A RAC2 RAG1 RAG2 RANBP2 RASGRP1 REL RELA RELB RFX5 RFXANK RFXAP RIPK1 RMRP RNASEH2A RNASEH2B RNASEH2C RNU7-1 RORC RPSA SAMHD1 SASH3 SBDS SEC61A1 SH2D1A SH3KBP1 SKIC2 SKIC3 SLC29A3 SLC37A4 SLC39A7 SLC46A1 SLC7A7 SLCO2A1 SMARCD2 SNORA31 SOCS1 SP110 SPI1 SPINK5 SPPL2A SRP54 STAT1 STAT2 STAT3 STAT5B STAT6 STIM1 STING1 STK4 STX11 STXBP2 SYK TAFAZZIN TAP1 TAP2 TAPBP TBK1 TBX1 TBX2 TBX21 TCF3 TET2 TFRC TGFB1 TGFBR1 TGFBR2 TICAM1 TLR3 TLR7 TNFAIP3 TNFRSF13B TNFRSF13C TNFRSF1A TNFRSF4 TNFRSF9 TOP2B TRAF3 TRAF3IP2 TREX1 TRIM22 TRNT1 TTC7A TYK2 UBA1 UNC13D UNC93B1 UNG USB1 VPS13B VPS45 WAS XIAP ZAP70 ZNF341 ZNFX1

Methodology

Capture-based target enrichment used to isolate all coding exons and flanking intronic regions (±10-20 bp) of the 39 genes. Enriched libraries are sequenced on an GenolabM platform to an average depth of ≥100×

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