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
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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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