Els panells qGenEx® consisteixen en anàlisis d’exoma dirigides, que permeten restringir l’estudi a un grup de gens concret segons l’especialitat o sospita clínica concreta, al mateix temps que generen dades de la totalitat de l’exoma, per si en primera instància no s’identifica el gen responsable, ja tinguem les dades apunt per a noves anàlisis presents o futures.
El servei qGenEx® TM analitza 651 gens associats a diferents trastorns del metabolisme, fent servir seqüenciació d’exoma complet mitjançant NGS.
Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:
gene |
---|
ATP6 |
ATP8 |
COX1 |
COX2 |
COX3 |
CYTB |
ND1 |
ND2 |
ND3 |
ND4 |
ND4L |
ND5 |
ND6 |
RNR1 |
tRNA-Ala |
tRNA-Cys |
tRNA-Asp |
tRNA-Glu |
tRNA-Phe |
tRNA-Gly |
tRNA-His |
tRNA-Ile |
tRNA-Lys |
tRNA-Leu1 |
tRNA-Leu2 |
tRNA-Met |
tRNA-Asn |
tRNA-Pro |
tRNA-Gln |
tRNA-Arg |
tRNA-Ser1 |
tRNA-Ser2 |
tRNA-Val |
tRNA-Trp |
tRNA-Tyr |
AARS2 |
AASS |
ABAT |
ABCA1 |
ABCB11 |
ABCB4 |
ABCB7 |
ABCD1 |
ABCD4 |
ABCG5 |
ABCG8 |
ABHD12 |
ABHD5 |
ACAD8 |
ACAD9 |
ACADM |
ACADS |
ACADSB |
ACADVL |
ACAT1 |
ACBD5 |
ACO2 |
ACOX1 |
ACSF3 |
ACY1 |
ADA |
ADAR |
ADSL |
AFG3L2 |
AGA |
AGK |
AGL |
AGPS |
AGXT |
AHCY |
AIFM1 |
AKR1D1 |
ALAD |
ALAS2 |
ALDH18A1 |
ALDH3A2 |
ALDH4A1 |
ALDH5A1 |
ALDH6A1 |
ALDH7A1 |
ALDOA |
ALDOB |
ALG1 |
ALG11 |
ALG12 |
ALG14 |
ALG3 |
ALG6 |
ALG8 |
ALG9 |
ALPL |
AMACR |
AMN |
AMT |
ANO10 |
APOA1 |
APOA5 |
APOB |
APOC2 |
APOE |
COA8 |
APRT |
APTX |
ARG1 |
ARSA |
ARSB |
ARSL |
ASAH1 |
ASL |
ASPA |
ASS1 |
ATAD3A |
ATIC |
ATP13A2 |
ATP6AP1 |
ATP6V0A2 |
ATP7A |
ATP7B |
ATP8B1 |
ATPAF2 |
AUH |
B3GALNT2 |
B3GALT6 |
B3GAT3 |
B3GLCT |
B4GALT1 |
B4GALT7 |
BAAT |
BCKDHA |
BCKDHB |
BCKDK |
BCS1L |
BOLA3 |
BTD |
C12orf65 |
C19orf12 |
CA5A |
CAT |
CBS |
CCDC115 |
CHCHD10 |
CHKB |
CHST14 |
CHST3 |
CHST6 |
CHSY1 |
CISD2 |
CLDN16 |
CLDN19 |
CLN3 |
CLN5 |
CLN6 |
CLN8 |
CLPB |
CLPP |
CNNM2 |
COG1 |
COG4 |
COG5 |
COG6 |
COG7 |
COG8 |
COQ2 |
COQ4 |
COQ6 |
COQ7 |
COQ8A |
COQ8B |
COQ9 |
COX10 |
COX14 |
COX15 |
COX20 |
COX6A1 |
COX6B1 |
COX7B |
CP |
CPOX |
CPS1 |
CPT1A |
CPT2 |
CTH |
CTNS |
CTSA |
CTSC |
CTSD |
CTSK |
CUBN |
CYC1 |
CYP27A1 |
CYP7B1 |
D2HGDH |
DARS1 |
DARS2 |
DBH |
DBT |
DCXR |
DDC |
DGUOK |
DHCR24 |
DHCR7 |
DHFR |
DHODH |
DHTKD1 |
DLAT |
DLD |
DNA2 |
DNAJC12 |
DNAJC19 |
DNAJC5 |
DNM1L |
DNM2 |
DOLK |
DPAGT1 |
DPM1 |
DPM2 |
DPM3 |
DPYD |
DPYS |
DYM |
EARS2 |
EBP |
ECHS1 |
ELAC2 |
ENO3 |
EPG5 |
EPM2A |
ETFA |
ETFB |
ETFDH |
ETHE1 |
EXT1 |
EXT2 |
FA2H |
FAH |
FAR1 |
FARS2 |
FASTKD2 |
FBP1 |
FBXL4 |
FDX2 |
FECH |
FGFR2 |
FH |
FKRP |
FKTN |
FMO3 |
FOLR1 |
FOXRED1 |
FTCD |
FUCA1 |
FUT8 |
FXN |
G6PC |
G6PC3 |
GAA |
GABRG2 |
GALC |
GALE |
GALK1 |
GALNS |
GALNT3 |
GALT |
GAMT |
GARS1 |
GATM |
GBA |
GBE1 |
GCDH |
GCH1 |
GCLC |
GDAP1 |
GFER |
GFM1 |
GFPT1 |
CBLIF |
GK |
GLA |
GLB1 |
GLDC |
GLRA1 |
GLRX5 |
GLUD1 |
GLUL |
GLYCTK |
GM2A |
GMPPB |
GNE |
GNMT |
GNPAT |
GNPTAB |
GNPTG |
GNS |
GPD1 |
GPHN |
GRHPR |
GSS |
GTPBP3 |
GUSB |
GYG1 |
GYS1 |
GYS2 |
HAAO |
HADH |
HADHA |
HADHB |
HAMP |
HARS2 |
HCCS |
HCFC1 |
HEXA |
HEXB |
HFE |
HJV |
HGD |
HGSNAT |
HIBCH |
HLCS |
HMBS |
HMGCL |
HMGCS2 |
HOGA1 |
HPD |
HPRT1 |
HPS1 |
HS2ST1 |
HSD17B10 |
HSD17B4 |
HSD3B7 |
HSPD1 |
HTRA2 |
HYAL1 |
IARS2 |
IBA57 |
IDH2 |
IDS |
IDUA |
IER3IP1 |
ISCA2 |
ISCU |
CRPPA |
ITPA |
IVD |
KARS1 |
KYNU |
L2HGDH |
LAMP2 |
LARGE1 |
LARS1 |
LARS2 |
LBR |
LCAT |
LCT |
LDHA |
LDLR |
LDLRAP1 |
LIAS |
LIPA |
LIPT1 |
LMBRD1 |
LONP1 |
LPIN1 |
LPL |
LRPPRC |
MAGT1 |
MAN1B1 |
MAN2B1 |
MANBA |
MAOA |
MARS2 |
MAT1A |
MCCC1 |
MCCC2 |
MCEE |
MCOLN1 |
MFF |
MFN2 |
MFSD8 |
MGAT2 |
MGME1 |
MIF |
MLYCD |
MMAA |
MMAB |
MMACHC |
MMADHC |
MOCS1 |
MOCS2 |
MOGS |
MPDU1 |
MPI |
MPV17 |
MRPL3 |
MRPS22 |
MSMO1 |
MT3 |
MTFMT |
MTHFR |
MTO1 |
MTPAP |
MTR |
MTRR |
MTTP |
MMUT |
MVK |
NAGA |
NAGLU |
NAGS |
NARS2 |
NDUFA1 |
NDUFA10 |
NDUFA11 |
NDUFA2 |
NDUFAF1 |
NDUFAF2 |
NDUFAF3 |
NDUFAF4 |
NDUFAF5 |
NDUFAF6 |
NDUFB11 |
NDUFB3 |
NDUFS1 |
NDUFS2 |
NDUFS3 |
NDUFS4 |
NDUFS6 |
NDUFS7 |
NDUFS8 |
NDUFV1 |
NDUFV2 |
NEU1 |
NFU1 |
NGLY1 |
NHLRC1 |
NNT |
NPC1 |
NPC2 |
NSDHL |
NT5C3A |
NUBPL |
OAT |
OCRL |
OPA1 |
OPA3 |
OTC |
OXCT1 |
PAH |
PANK2 |
PC |
PCBD1 |
PCCA |
PCCB |
PCK1 |
PCSK9 |
PDHA1 |
PDHB |
PDHX |
PDP1 |
PDSS1 |
PDSS2 |
PEPD |
PET100 |
PEX1 |
PEX10 |
PEX11B |
PEX12 |
PEX13 |
PEX14 |
PEX16 |
PEX19 |
PEX2 |
PEX26 |
PEX3 |
PEX5 |
PEX6 |
PEX7 |
PFKM |
PGAM2 |
PGAP2 |
PGAP3 |
PGK1 |
PGM1 |
PGM3 |
PHGDH |
PHKA1 |
PHKA2 |
PHKB |
PHKG2 |
PHYH |
PIGA |
PIGL |
PIGN |
PIGO |
PIGT |
PIGV |
PINK1 |
PLA2G6 |
PMM2 |
PMPCA |
PNP |
PNPO |
PNPT1 |
POLG |
POLG2 |
POMGNT1 |
POMGNT2 |
POMT1 |
POMT2 |
POR |
PPA2 |
PPOX |
PPT1 |
PRKAG2 |
PRODH |
PRPS1 |
PSAP |
PSAT1 |
PTS |
PUS1 |
PYCR1 |
PYGL |
PYGM |
QDPR |
RARS2 |
RBCK1 |
RBP4 |
RFT1 |
RMND1 |
RNASEH1 |
RPIA |
RPL10 |
RRM2B |
SACS |
SAMHD1 |
SAR1B |
SARS2 |
SC5D |
SCO1 |
SCO2 |
SCP2 |
SDHA |
SDHAF1 |
SDHB |
SDHD |
SEC23B |
SERAC1 |
SETX |
SGSH |
SI |
SKIV2L |
SLC12A3 |
SLC16A1 |
SLC17A5 |
SLC18A2 |
SLC19A2 |
SLC19A3 |
SLC22A5 |
SLC25A1 |
SLC25A12 |
SLC25A13 |
SLC25A15 |
SLC25A19 |
SLC25A20 |
SLC25A22 |
SLC25A26 |
SLC25A3 |
SLC25A38 |
SLC25A4 |
SLC25A46 |
SLC2A1 |
SLC2A2 |
SLC30A10 |
SLC35A1 |
SLC35A2 |
SLC35C1 |
SLC35D1 |
SLC37A4 |
SLC39A14 |
SLC39A4 |
SLC39A8 |
SLC3A1 |
SLC40A1 |
SLC46A1 |
SLC52A2 |
SLC52A3 |
SLC5A1 |
SLC6A19 |
SLC6A20 |
SLC6A3 |
SLC6A8 |
SLC7A7 |
SLC7A9 |
SMPD1 |
SPG7 |
SPR |
SPTLC1 |
SPTLC2 |
SRD5A3 |
SSR4 |
ST3GAL3 |
ST3GAL5 |
STS |
SUCLA2 |
SUCLG1 |
SUMF1 |
SUOX |
SURF1 |
TACO1 |
TALDO1 |
TANGO2 |
TAT |
TAZ |
TCN2 |
TFR2 |
TIMM8A |
TK2 |
TMEM165 |
RXYLT1 |
TMEM70 |
TPK1 |
TPP1 |
TRAP1 |
TREX1 |
TRIM37 |
TRMU |
TRNT1 |
TRPM6 |
TSFM |
TTC19 |
TTC37 |
TTPA |
TUFM |
TUSC3 |
TWNK |
TYMP |
UGT1A1 |
UMOD |
UMPS |
UQCRB |
UROD |
UROS |
VARS2 |
VIPAS39 |
VKORC1 |
VPS33B |
WDR45 |
WFS1 |
XDH |
XYLT1 |
XYLT2 |
YARS2 |