qGenEx® ID. Intellectual Disability

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

qGenEx ID, analyzes 1312 genes associated with Intellectual Disability 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
AAAS
AARS1
AASS
ABAT
ABCA2
ABCC9
ABCD1
ABCD4
ABHD16A
ABHD5
ACAD9
ACADM
ACADS
ACER3
ACO2
ACOX1
ACSL4
ACTB
ACTG1
ACTL6A
ACTL6B
ACY1
ADAM22
ADAR
ADARB1
ADAT3
ADD1
ADD3
ADGRG1
ADK
ADNP
ADSL
AFF2
AFF3
AFF4
AGA
AHCY
AHDC1
AHI1
AIFM1
AIMP1
AKT3
ALDH18A1
ALDH3A2
ALDH4A1
ALDH5A1
ALDH7A1
ALG1
ALG11
ALG12
ALG13
ALG3
ALG6
ALG8
ALG9
ALKBH8
ALMS1
AMER1
AMPD2
AMT
ANK2
ANK3
ANKRD11
ANKRD17
AP1G1
AP1S1
AP1S2
AP2M1
AP3B1
AP3B2
AP4B1
AP4E1
AP4M1
AP4S1
APC2
ARCN1
ARF1
ARFGEF1
ARFGEF2
ARG1
ARHGEF9
ARID1A
ARID1B
ARID2
ARL13B
ARL6
ARMC9
ARSA
ARSB
ARSL
ARV1
ARX
ASAH1
ASH1L
ASL
ASNS
ASPA
ASPM
ASS1
ASXL1
ASXL2
ASXL3
ATAD1
ATAD3A
ATG7
ATIC
ATM
ATN1
ATP13A2
ATP1A1
ATP1A2
ATP1A3
ATP2B1
ATP6AP2
ATP6V0A1
ATP6V0A2
ATP6V1A
ATP6V1B2
ATP7A
ATP8A2
ATP9A
ATR
ATRX
AUH
AUTS2
B3GALNT2
B3GLCT
B4GALNT1
B4GALT7
B9D2
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCAP31
BCAS3
BCKDHA
BCKDHB
BCKDK
BCL11A
BCL11B
BCOR
BCS1L
BICRA
BLM
BLOC1S1
BMP4
BOLA3
BPTF
BRAF
BRAT1
BRD4
BRF1
BRPF1
BRSK2
BRWD3
BSCL2
BTD
BUB1B
C12orf4
C12orf57
C12orf65
C2CD3
CA2
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1D
CACNA1E
CACNA1G
CACNA1I
CACNA2D1
CAD
CAMK2A
CAMK2B
CAMK4
CAMTA1
CAPN15
CARS1
CASK
CBL
CBS
CC2D1A
CC2D2A
CCBE1
CCDC22
CCDC32
CCDC47
CCDC88C
CCND2
CDC42
CDC6
CDH11
CDH2
CDK10
CDK13
CDK19
CDK5RAP2
CDK8
CDKL5
CDON
CELF2
CENPF
CENPJ
CEP104
CEP120
CEP135
CEP152
CEP290
CEP41
CEP55
CEP57
CEP83
CEP85L
CERT1
CHAMP1
CHD2
CHD3
CHD4
CHD5
CHD7
CHD8
CHKA
CHKB
CHMP1A
CIC
CIT
CKAP2L
CLCN3
CLCN4
CLN3
CLN5
CLN6
CLN8
CLP1
CLPB
CLTC
CNKSR2
CNNM2
CNOT1
CNOT2
CNOT3
CNTNAP1
CNTNAP2
COA8
COASY
COG1
COG4
COG5
COG6
COG7
COG8
COL4A1
COL4A2
COLEC11
COPB2
COQ4
COQ8A
COX10
COX15
CPE
CPLANE1
CPS1
CRADD
CRB2
CREBBP
CRPPA
CSDE1
CSNK1G1
CSNK2A1
CSNK2B
CSPP1
CSTB
CTBP1
CTCF
CTDP1
CTNNA2
CTNNB1
CTNND1
CTSA
CTSD
CTU2
CUL3
CUL4B
CUX1
CUX2
CWC27
CWF19L1
CXorf56
CYB5R3
CYC1
CYFIP2
D2HGDH
DAG1
DARS1
DARS2
DBT
DCAF17
DCHS1
DCPS
DCX
DDB1
DDC
DDHD2
DDX11
DDX3X
DDX59
DDX6
DEAF1
DEGS1
DEPDC5
DHCR24
DHCR7
DHDDS
DHFR
DHPS
DHTKD1
DHX30
DHX37
DIAPH1
DIS3L2
DKC1
DLD
DLG3
DLG4
DLL1
DMD
DMXL2
DNAJC12
DNAJC19
DNM1
DNM1L
DNMT3A
DNMT3B
DOCK3
DOCK6
DOCK7
DOLK
DPAGT1
DPF2
DPH1
DPM1
DPM2
DPP6
DPYD
DPYS
DPYSL5
DTYMK
DYM
DYNC1H1
DYRK1A
EARS2
EBF3
EBP
EDEM3
EED
EEF1A2
EFTUD2
EHMT1
EIF2AK2
EIF2AK3
EIF2S3
EIF3F
EIF4A3
EIF5A
ELAC2
ELOVL4
ELP2
EMC1
EMC10
EML1
EMX2
EP300
EPG5
ERBB4
ERCC1
ERCC2
ERCC3
ERCC5
ERCC6
ERCC6L2
ERCC8
ERLIN2
ESCO2
ETFA
ETFB
ETFDH
ETHE1
EXOSC3
EXT2
EXTL3
EZH2
FAM111A
FAM126A
FAM20C
FAM50A
FAR1
FARS2
FARSA
FAT4
FBRSL1
FBXL3
FBXL4
FBXO11
FBXO28
FBXO31
FBXW11
FBXW7
FGD1
FGF12
FH
FIG4
FKRP
FKTN
FLNA
FLVCR2
FMN2
FMR1
FOLR1
FOXG1
FOXP1
FOXP2
FOXRED1
FRMPD4
FTCD
FTSJ1
FUCA1
FUT8
GABBR2
GABRA1
GABRA2
GABRA5
GABRB2
GABRB3
GABRD
GABRG2
GAD1
GALC
GALE
GALNT2
GALT
GAMT
GATAD2B
GATM
GCDH
GCH1
GDI1
GEMIN5
GFAP
GFER
GFM1
GJC2
GK
GLB1
GLDC
GLI2
GLI3
GLIS3
GLRA2
GLUL
GLYCTK
GM2A
GMPPA
GMPPB
GNAI1
GNAO1
GNAS
GNB1
GNB2
GNB5
GNPAT
GNPTAB
GNPTG
GNS
GPAA1
GPC3
GPC4
GPT2
GRIA2
GRIA3
GRIA4
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN2D
GRM1
GTF2E2
GTF2H5
GTPBP2
GTPBP3
GUSB
H1-4
H3-3A
H3-3B
H4C3
HACE1
HADHA
HCCS
HCFC1
HCN1
HDAC4
HDAC8
HECW2
HEPACAM
HERC1
HERC2
HESX1
HEXA
HEXB
HGSNAT
HIBCH
HID1
HIVEP2
HK1
HLCS
HMGB1
HMGCL
HNMT
HNRNPH1
HNRNPH2
HNRNPK
HNRNPR
HNRNPU
HOXA1
HPD
HPDL
HPRT1
HRAS
HSD17B10
HSD17B4
HSPD1
HTRA2
HUWE1
IARS1
IBA57
IDH2
IDS
IDUA
IER3IP1
IFIH1
IFT172
IGF1
IGF1R
IKBKG
IL1RAPL1
IMPDH2
INPP5E
INPP5K
INTS1
IQSEC2
IRF2BPL
IRX5
ITPA
ITPR1
IVD
JAM3
JARID2
KANSL1
KARS1
KAT5
KAT6A
KAT6B
KAT8
KCNA2
KCNB1
KCNC1
KCND2
KCNH1
KCNJ10
KCNJ11
KCNJ6
KCNK9
KCNMA1
KCNN2
KCNN3
KCNQ2
KCNQ3
KCNQ5
KCNT1
KCNT2
KCTD3
KCTD7
KDM1A
KDM3B
KDM4B
KDM5B
KDM5C
KDM6A
KDM6B
KIAA0586
KIAA1109
KIDINS220
KIF11
KIF14
KIF1A
KIF21B
KIF2A
KIF5A
KIF5C
KIF7
KIFBP
KLF7
KLHL7
KMT2A
KMT2C
KMT2D
KMT2E
KMT5B
KNL1
KPTN
KRAS
L1CAM
L2HGDH
LAMA1
LAMA2
LAMB1
LAMC3
LAMP2
LARGE1
LARP7
LARS1
LIAS
LIG4
LINGO4
LINS1
LIPT1
LMBRD2
LMNB1
LONP1
LRP2
LRPPRC
LSS
LYRM7
LZTR1
MAB21L1
MAB21L2
MACF1
MADD
MAF
MAGEL2
MAN1B1
MAN2B1
MANBA
MAOA
MAP1B
MAP2K1
MAP2K2
MAPK1
MAPK8IP3
MAPRE2
MASP1
MAST1
MAT1A
MBD5
MBOAT7
MBTPS2
MCCC1
MCCC2
MCM3AP
MCOLN1
MCPH1
MDH2
MECP2
MED12
MED13
MED13L
MED17
MED23
MED25
MED27
MEF2C
MEIS2
METTL23
METTL5
MFF
MFSD2A
MFSD8
MGAT2
MICU1
MID1
MINPP1
MKKS
MKS1
MLC1
MLYCD
MMAA
MMAB
MMACHC
MMADHC
MMUT
MN1
MOCS1
MOCS2
MOGS
MORC2
MPDU1
MPLKIP
MPP5
MRPS22
MRPS34
MSL3
MSMO1
MTFMT
MTHFR
MTHFS
MTO1
MTOR
MTR
MTRR
MVK
MYCN
MYO5A
MYT1L
NAA10
NAA15
NACC1
NAGA
NAGLU
NALCN
NANS
NAPB
NARS1
NBEA
NCDN
NCKAP1
NDE1
NDP
NDST1
NDUFA1
NDUFA2
NDUFS1
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NEDD4L
NEMF
NEU1
NEUROD2
NEXMIF
NF1
NFASC
NFIA
NFIX
NFU1
NGLY1
NHS
NIPBL
NKAP
NKX2-1
NLGN3
NONO
NOVA2
NPC1
NPC2
NPHP1
NR2F1
NR4A2
NRAS
NRCAM
NRROS
NRXN1
NSD1
NSD2
NSDHL
NSRP1
NSUN2
NT5C2
NTNG2
NTRK1
NTRK2
NUBPL
NUDT2
NUS1
OCLN
OCRL
ODC1
OFD1
OGDHL
OGT
OPA3
OPHN1
OSGEP
OTC
OTUD5
OTUD6B
OTX2
OXR1
P4HTM
PACS1
PACS2
PAFAH1B1
PAH
PAK1
PAK3
PARN
PAX6
PAX8
PBX1
PC
PCCA
PCCB
PCDH12
PCDH19
PCDHGC4
PCGF2
PCNT
PCYT2
PDE4D
PDGFRB
PDHA1
PDHB
PDHX
PDSS1
PDSS2
PDZD8
PEPD
PET100
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGAP1
PGAP2
PGAP3
PGK1
PGM2L1
PGM3
PHACTR1
PHF21A
PHF6
PHF8
PHGDH
PHIP
PI4KA
PIBF1
PIDD1
PIGA
PIGB
PIGC
PIGG
PIGH
PIGK
PIGL
PIGN
PIGO
PIGP
PIGQ
PIGS
PIGT
PIGU
PIGV
PIGW
PIK3CA
PIK3R2
PITRM1
PLA2G6
PLAA
PLCB1
PLK4
PLP1
PLPBP
PMM2
PMPCB
PNKP
PNPLA6
PNPT1
POGZ
POLA1
POLG
POLR1C
POLR2A
POLR3A
POLR3B
POLRMT
POMGNT1
POMGNT2
POMT1
POMT2
PORCN
POU3F3
PPIL1
PPM1D
PPP1CB
PPP1R12A
PPP1R15B
PPP1R21
PPP2CA
PPP2R1A
PPP2R5D
PPP3CA
PPT1
PQBP1
PRDM13
PRICKLE2
PRMT7
PRPF8
PRPS1
PRR12
PRSS12
PRUNE1
PSAP
PSMD12
PSPH
PTCH1
PTCHD1
PTDSS1
PTEN
PTF1A
PTPN11
PTPN23
PTPN4
PTRHD1
PTS
PUF60
PUM1
PURA
PUS1
PUS3
PUS7
PYCR1
PYCR2
QARS1
QDPR
QRICH1
RAB11A
RAB11B
RAB18
RAB23
RAB39B
RAB3GAP1
RAB3GAP2
RAC1
RAC3
RAD21
RAF1
RAI1
RALA
RALGAPA1
RARB
RARS1
RARS2
RBBP8
RBM10
RELN
RERE
RFT1
RFX3
RFX4
RFX7
RHOBTB2
RIT1
RLIM
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF113A
RNF125
RNF13
RNU7-1
ROGDI
ROR2
RORA
RPGRIP1L
RPIA
RPL10
RPS6KA3
RRM2B
RSRC1
RTEL1
RTN4IP1
RTTN
RXYLT1
SAMD9
SAMHD1
SARS2
SATB1
SATB2
SBF1
SC5D
SCAF4
SCAMP5
SCAPER
SCN1A
SCN2A
SCN3A
SCN8A
SCO2
SCYL1
SDCCAG8
SDHA
SDHAF1
SEPSECS
SERAC1
SET
SETBP1
SETD1A
SETD1B
SETD2
SETD5
SFXN4
SGPL1
SGSH
SHANK2
SHANK3
SHH
SHMT2
SHOC2
SIAH1
SIK1
SIL1
SIN3A
SIN3B
SIX3
SKI
SLC12A2
SLC12A5
SLC12A6
SLC13A5
SLC16A2
SLC17A5
SLC19A3
SLC1A1
SLC1A2
SLC1A4
SLC25A1
SLC25A12
SLC25A15
SLC25A22
SLC2A1
SLC33A1
SLC35A1
SLC35A2
SLC35C1
SLC38A3
SLC39A14
SLC39A8
SLC46A1
SLC4A4
SLC5A6
SLC6A1
SLC6A17
SLC6A19
SLC6A3
SLC6A8
SLC6A9
SLC9A6
SLX4
SMAD4
SMARCA2
SMARCA4
SMARCA5
SMARCB1
SMARCC2
SMARCD1
SMARCE1
SMC1A
SMC3
SMG8
SMOC1
SMPD1
SMPD4
SMS
SNAP25
SNAP29
SNIP1
SNORD118
SNRPB
SNX14
SNX27
SON
SOS1
SOS2
SOX10
SOX11
SOX2
SOX4
SOX5
SOX6
SOX9
SPART
SPATA5
SPATA5L1
SPECC1L
SPEN
SPG11
SPOP
SPR
SPRED1
SPRED2
SPTAN1
SPTBN1
SPTBN2
SPTBN4
SRCAP
SRD5A3
SRRM2
SSR4
ST3GAL3
ST3GAL5
STAG1
STAG2
STAMBP
STIL
STRA6
STRADA
STT3A
STX1B
STXBP1
SUCLG1
SUMF1
SUOX
SUPT16H
SURF1
SUZ12
SVBP
SYN1
SYNCRIP
SYNGAP1
SYNJ1
SYP
SYT1
SZT2
TAF1
TAF6
TAF8
TANC2
TANGO2
TAOK1
TASP1
TAT
TAZ
TBC1D20
TBC1D23
TBC1D24
TBCD
TBCE
TBCK
TBL1XR1
TBR1
TCF20
TCF4
TCF7L2
TCN2
TCTN2
TCTN3
TDP2
TECPR2
TELO2
TENM3
TET3
TFE3
TGIF1
TH
THOC2
THOC6
THRA
THUMPD1
TIAM1
TIMM50
TLK2
TMCO1
TMEM106B
TMEM165
TMEM216
TMEM222
TMEM237
TMEM240
TMEM63C
TMEM67
TMEM70
TMEM94
TMTC3
TMX2
TNPO2
TNRC6B
TOE1
TOR1A
TP73
TPP1
TPP2
TRAF7
TRAIP
TRAPPC12
TRAPPC4
TRAPPC6B
TRAPPC9
TREX1
TRIM8
TRIO
TRIP12
TRIT1
TRMT1
TRMT10A
TRNT1
TRPM3
TRRAP
TSC1
TSC2
TSEN2
TSEN34
TSEN54
TSFM
TSHB
TSPAN7
TTC19
TTC37
TTC5
TTC8
TTI2
TUBA1A
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUBGCP6
TUSC3
TWIST1
UBA5
UBE2A
UBE3A
UBE3B
UBE4A
UBR1
UBR7
UBTF
UFM1
UFSP2
UGDH
UGP2
UMPS
UNC80
UPF3B
UROC1
USP7
USP9X
VAMP2
VARS1
VARS2
VLDLR
VPS11
VPS13B
VPS41
VPS4A
VPS53
VRK1
WAC
WARS2
WASF1
WDFY3
WDPCP
WDR26
WDR37
WDR4
WDR45
WDR45B
WDR62
WDR73
WDR81
WNK3
WNT1
WWOX
XRCC4
XYLT1
YIF1B
YIPF5
YWHAG
YY1
ZBTB18
ZBTB20
ZBTB24
ZBTB7A
ZC4H2
ZDHHC9
ZEB2
ZFHX4
ZFYVE26
ZIC1
ZIC2
ZMIZ1
ZMYM2
ZMYND11
ZNF142
ZNF335
ZNF462
ZNF526
ZNF699
ZNF711
ZSWIM6
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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.