qGenEx® EP. Epilepsy

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 521 genes associated with Epilepsy 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
AARS1
ABAT
ACOX1
ACTL6B
ADAR
ADGRG1
ADPRS
ADSL
AFF3
AIMP1
AKT3
ALDH5A1
ALDH7A1
ALG1
ALG11
ALG13
ALG3
ALG6
ALG8
ALG9
ALPL
AMPD2
AMT
AP2M1
AP3B2
ARFGEF2
ARG1
ARHGEF9
ARID1B
ARV1
ARX
ASAH1
ASPA
ATN1
ATP1A1
ATP1A2
ATP1A3
ATP6V0A2
ATP6V1A
ATP7A
ATRX
BCKDHA
BCKDHB
BCS1L
BOLA3
BRAF
BRAT1
BSCL2
BTD
C12orf57
CACNA1A
CACNA1B
CACNA1D
CACNA1E
CACNA1G
CACNA2D2
CAD
CASK
CC2D2A
CDKL5
CHD2
CHRNA2
CHRNA4
CHRNB2
CIC
CLCN4
CLN3
CLN8
CLTC
CNKSR2
CNNM2
CNPY3
CNTNAP2
COG7
COL18A1
COL4A1
COL4A2
COQ2
COQ4
COQ9
CPA6
CREBBP
CSNK2B
CSTB
CTNNA2
CTSD
CUL4B
CUX2
CYFIP2
D2HGDH
DBT
DCX
DDX3X
DEAF1
DEGS1
DENND5A
DEPDC5
DHDDS
DHPS
DHX30
DIAPH1
DNM1
DNM1L
DOCK7
DPAGT1
DPM1
DPYD
DYNC1H1
DYRK1A
EARS2
EEF1A2
EFTUD2
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF2S3
EIF3F
EML1
EPG5
EPM2A
ETHE1
EXOSC3
FARS2
FBXL4
FBXO11
FGF12
FKTN
FLNA
FOLR1
FOXG1
FRRS1L
FUCA1
FUT8
GABBR2
GABRA1
GABRA2
GABRA5
GABRB2
GABRB3
GABRG2
GALC
GAMT
GBA
GFAP
GLB1
GLDC
GLUD1
GLUL
GM2A
GNAO1
GNAQ
GNB1
GNB5
GOSR2
GOT2
GPAA1
GPHN
GRIA4
GRIN1
GRIN2A
GRIN2B
GRIN2D
GTPBP2
HACE1
HAX1
HCFC1
HCN1
HCN2
HECW2
HEPACAM
HEXA
HEXB
HMGCL
HNRNPH2
HNRNPR
HNRNPU
HRAS
HSD17B4
HTRA2
IER3IP1
IFIH1
IKBKG
IQSEC2
IRF2BPL
ITPA
KARS1
KCNA2
KCNB1
KCNC1
KCNJ10
KCNJ11
KCNK4
KCNMA1
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCNT2
KCTD3
KCTD7
KIAA1109
KIF1A
KIF2A
KIF5C
KMT2E
KRAS
LGI1
LIAS
MACF1
MAF
MAGI2
MAP2K1
MAP2K2
MBD5
MBOAT7
MDH2
MECP2
MED12
MEF2C
MFF
MFSD8
MLC1
MMACHC
MMADHC
MOCS1
MOCS2
MOGS
MPDU1
MTHFR
MTOR
NACC1
NAGA
NARS2
NBEA
NDE1
NDUFA1
NDUFA10
NDUFAF2
NDUFAF5
NDUFS4
NDUFS8
NDUFV1
NEXMIF
NGLY1
NHLRC1
NPRL2
NPRL3
NRXN1
NSD1
NSDHL
NTRK2
NUS1
OCLN
OPHN1
OTUD6B
P4HTM
PACS1
PACS2
PAFAH1B1
PAH
PAK1
PARS2
PCCA
PCCB
PCDH12
PCDH19
PDHA1
PDHX
PET100
PHACTR1
PHGDH
PIGA
PIGB
PIGC
PIGG
PIGH
PIGN
PIGO
PIGQ
PIGT
PIGU
PIGW
PIK3R2
PLAA
PLCB1
PLPBP
PMM2
PNKP
PNPO
POLG
POMGNT1
POMT1
PPP2CA
PPP3CA
PPT1
PRICKLE1
PRMT7
PRRT2
PSAP
PTPN23
PTS
PURA
QARS1
RAB11B
RAB18
RALA
RARS2
RELN
RFT1
RHOBTB2
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
ROGDI
RORA
RORB
RTN4IP1
RTTN
SAMHD1
SCARB2
SCN1A
SCN1B
SCN2A
SCN3A
SCN8A
SEPSECS
SETBP1
SGSH
SIK1
SLC12A5
SLC13A5
SLC16A2
SLC1A2
SLC1A4
SLC25A1
SLC25A12
SLC25A22
SLC2A1
SLC35A2
SLC6A1
SLC6A8
SLC9A6
SMARCA2
SMARCC2
SMC1A
SMS
SNAP25
SNORD118
SPATA5
SPTAN1
ST3GAL5
STAG1
STAMBP
STRADA
STX1B
STXBP1
SUCLA2
SUOX
SURF1
SYN1
SYNGAP1
SYNJ1
SZT2
TANGO2
TBC1D24
TBCD
TBCK
TBL1XR1
TCF4
TDP2
TPP1
TRAK1
TREX1
TRIM8
TRPM6
TSC1
TSC2
TSEN54
TUBA1A
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
UBA5
UBE2A
UBE3A
UFM1
UNC80
VAMP2
VARS1
VPS11
WARS2
WASF1
WDR37
WDR45
WDR73
WWOX
YWHAG
ZBTB18
ZDHHC9
ZEB2
ZNF142
ADARB1
ALG14
ALKBH8
ANKRD11
AP1G1
APC2
ARF1
ARFGEF1
ASH1L
ASNS
ATP6V0A1
CACNA1C
CACNA1I
CACNB4
CARS2
CDK19
CELF2
CEP85L
CERS1
CHD5
CHKA
CLCN3
CLPB
CUL3
DDC
DLL1
DMXL2
DROSHA
DTYMK
EMC10
FAR1
FASTKD2
FBXO28
FGF13
GABRD
GAD1
GALNT2
GLRA2
GRIK2
GRN
H3-3A
H3-3B
HERC2
HID1
HPDL
KAT5
KAT8
KCNC2
KCND2
KCNH1
LARS1
LMBRD2
MADD
MED27
MINPP1
MTHFS
NAPB
NARS1
NEUROD2
NR4A2
NRROS
NSRP1
OGDHL
OXR1
PCDHGC4
PCYT2
PGM2L1
PIDD1
PIGK
PIGP
PMPCB
PNPT1
PPIL1
PRPF8
PTEN
PUM1
RALGAPA1
RARS1
RNF113A
RNF13
SATB1
SCAF4
SCAMP5
SEMA6B
SERPINI1
SETD1A
SETD1B
SETD5
SLC38A3
SNIP1
SPATA5L1
SPTBN1
TAF8
TBC1D2B
TFE3
TIAM1
TIMM50
TMEM222
TMX2
TNPO2
TRAPPC12
TRAPPC4
TRPM3
TUBGCP2
UBR7
UFSP2
UGDH
UGP2
USP18
WDR45B
WNK3
YIPF5
ZNF335

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.