qGenEx® PI. Primary Immunodeficiencies

Within the qGenEx services, the directed exome panels allow to restrict the study to a specific group of genes according to each specialty.

qGenEx CA, analyzes 253 genes associated with Primary Immunodeficiencies using complete exome sequencing by NGS.

Use the search engine to find the group of genes included in the panel related to the pathology you are interested in:
gene
ACD
ACP5
ADA
ADAR
AICDA
AIRE
AK2
AP3B1
ARPC1B
ATM
ATP6AP1
B2M
BACH2
BLM
BLNK
BTK
C1QA
C1QB
C1QC
C1R
C1S
C2
C3
C4A
C4B
C5
C6
C7
C8A
C8B
C9
CARD11
CARD14
CARD9
CARMIL2
CASP10
CASP8
CCBE1
CD19
CD27
CD3D
CD3E
CD3G
CD40
CD40LG
CD46
CD55
CD59
CD70
CD79A
CD79B
CDCA7
CEBPE
ADA2
CFD
CFH
CFI
CFP
CHD7
CIITA
CLPB
COPA
CORO1A
CSF2RA
CSF2RB
CSF3R
CTLA4
CTPS1
CTSC
CXCR4
CYBA
CYBB
DCLRE1B
DCLRE1C
DKC1
DNAJC21
DNASE2
DNMT3B
DOCK2
DOCK8
ELANE
EPG5
ERCC6L2
EXTL3
F12
FADD
FAS
FASLG
FAT4
FERMT3
FOXN1
FOXP3
G6PC3
G6PD
GATA1
GATA2
GFI1
GINS1
HAX1
HELLS
HPS1
HPS4
HPS6
HTRA2
ICOS
IFIH1
IFNGR1
IFNGR2
IGLL1
IKBKB
IKBKG
IKZF1
IL10
IL10RA
IL10RB
IL12B
IL12RB1
IL17RA
IL17RC
IL1RN
IL21R
IL2RA
IL2RG
IL36RN
IL7R
INO80
IRAK4
IRF8
ISG15
ITCH
ITGB2
ITK
JAGN1
JAK3
LAMTOR2
LAT
LCK
LIG4
LPIN2
LRBA
LYST
MAGT1
MALT1
MAP3K14
MCM4
MEFV
MOGS
MSN
MTHFD1
MVK
MYD88
MYO5B
MYSM1
NBN
NCF1
NCF2
NCF4
NFKB1
NFKB2
NFKBIA
NHEJ1
NHP2
NLRC4
NLRP12
NLRP3
NOD2
NSMCE3
ORAI1
OTULIN
PARN
PEPD
PGM3
PIK3CD
PIK3R1
PLCG2
PNP
POLA1
POMP
PRF1
PRKCD
PRKDC
PSMB8
PSTPIP1
PTPRC
RAB27A
RAG1
RAG2
RASGRP1
RBCK1
RFX5
RFXANK
RFXAP
RIPK1
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNF168
RORC
RPSA
RTEL1
SAMHD1
SBDS
SERPING1
SGPL1
SH2D1A
SKIV2L
SLC29A3
SLC35C1
SLC37A4
SLC46A1
SMARCAL1
SP110
SPINK5
SPPL2A
STAT1
STAT2
STAT3
STAT5B
STIM1
STK4
STX11
STXBP2
TAP1
TAP2
TAZ
TBK1
TCF3
TCN2
TICAM1
TLR3
TMC6
TMC8
STING1
TNFAIP3
TNFRSF1A
TPP2
TREX1
TRNT1
TTC37
TTC7A
TYK2
UNC13D
UNC93B1
UNG
USB1
VPS13B
VPS45
WAS
WIPF1
XIAP
ZAP70
ZBTB24

One analysis for each specialty… and for All.

Download the informed consent document HERE

Access the order platform Print application form
How to order a test
  1. Identify the adequate test from our service catalogue.
  2. Prepare the test application form and fill in all the information available both for the sample and the clinical record to guarantee highest quality of test results and shortest response time.
  3. It is crucial to correctly identify the sample with patient name or identifier and date of birth.
  4. Print the completed application form and sign it.
  5. Collect the required sample quantity.
  6. Properly prepare the sample shipment along with the application form.
  7. Alternatively, the order can be processed conveniently via our online order platform.
Required specifications for biologic samples
  • Blood – 1 EDTA tube with 3-5 ml (children 1ml minimum)
  • Purified DNA – usually >5 ug, at >50 ng/ul
  • Saliva or buccal swab – Request collection kit
  • Blood on filter paper – A minimum of 10 spots on Guthrie card or filter paper
  • Amniotic fluid – Minimum of 10 ml
  • CVS – Minimum of 2-3 villi
  • Cord blood – Minimum 1 ml
  • Cultured cells – 1 vial of 25 ml, minimum 80% confluence
  • Biopsy or fresh tissue – More than 10 mg of tissue
  • Paraffin-embedded tissue – At least 10 cuts of 20 um
  • cfDNA – 1 tube DNA BCT Streck with 10 ml of blood
How to prepare your sample for shipping

Call us at +34 932.301.270 and we will take care of a smooth sample pick-up and shipping.

How to prepare your sample for shipping?

  • Blood-EDTA, purified DNA, saliva, blood on paper, cord blood, biopsy, … are stable at room temperature for 3 or 4 days. Samples can be sent, adequately protected, by ordinary mail or courier.
  • Amniotic fluid (a minimum of 10 ml collected in a sterile falcon test tube). Can be sent at room temperature and low temperatures should be avoided. Samples should reach our laboratory in no more than 24 hours.
  • Chorionic villi samples must travel in the same way, in a tube with conical bottom FILLED TO CAPACITY with PBS or culture medium.
  • Cultured cells should be shipped at room temperature, in a culture flask filled to capacity with culture medium.
  • Blood for cfDNA analysis: must be shipped at room temperature.