GENE PANELS
EXOME - EXTENDED CARRIER SCREENING (ECS)
DETAILS
CERTIFICATES
141-MED (UZ Brussel)
INSTRUMENTS
Illumina NovaSeq 6000
Our highest capacity short read sequencer. This device can generate reads up to 250 bp in length (on the SP flowcell) and generate up to 10B reads per flowcell (S4).
DOWNLOADS
Analyses génomiques - Expert FR
2
Genome-wide genetic testing - Non-expert EN
2
Analyses génomiques - Non-experts FR
2
Genoomonderzoek in de genetica - Niet-expert NL
2
Genelist Exome - Extended Carrier Screening (ECS)
12
Genoomonderzoek in de genetica - Expert NL
2
Genome-wide genetic testing - Expert EN
2
Verzendinstructies DNA stalen - NL
1
CONTACT
Secretariaat Medische Genetica
+32 (0)2 477 64 79 (sec)
UZ Brussel
Centrum Medische Genetica
Laarbeeklaan 101
1090 Brussels
SAMPLE TYPES
We aim to keep the list with sample types updated. However, if you believe we offer this gene panel on other sample types, or if you have a very specific sample type you'd like to evaluate : please contact the corresponding persons for either diagnostic or research purposes.
Tissue | Recipient | Quantity | Transport | Purpose / Extract |
|---|---|---|---|---|
Blood | DBS / Guthrie card / Punch in microtube* | Min. 1 punch | Room temperature | DNA |
Blood | EDTA tube | 10 ml (min. 3 ml) | Room temperature | DNA |
Cells of various tissue origins | Microtube* with cell pellet or on lysis buffer | > 5 million cells | Dry ice | DNA |
DNA from various tissues | Microtube* | See test details/specifications | Room temperature | DNA |
DNA from various tissues | Microtube* or 96 well plate | See test details/specifications | Room temperature | DNA |
Tissue of various origins | Cryovial containing stabilizer (eg. AllProtect) or tissue homogenized on lysis buffer | Application/tissue specific (contact us) | Dry ice | DNA |
* Microtube can be a either a cryovial or eppendorf tube (0,5 ; 1,5 or 2 ml). Please consider the quality of the tube used (nuclease free ; free of RNA/DNA ; sterile ; LoBind) according to application needed.
DELIVERABLES
Which data files can be retrieved from us for this specific gene panel?
Deliverable | Description | Research or diagnostic |
|---|---|---|
Called variants - vcf file | Text file containing all detected variants as compared to the relevant reference genome | Diagnostic / RUO |
Clinical report | Diagnostic report generated by Clinical Geneticist/ Pathologist / Hematologist | Diagnostic |
Raw data - bam file | Binary data file containing the aligned reads | RUO (on request) |
Raw data - fastq file | Data file containing the raw (unaligned) reads | RUO (on request) |
Run folder | The complete run folder can be transferred if it concerns a run reservation (private run) | RUO (on request) |
GENELIST
AAAS
AARS2
ABAT
ABCA1
ABCA12
ABCA3
ABCA4
ABCB11
ABCB4
ABCB7
ABCC2
ABCC6
ABCC8
ABCD1
ABCD3
ABCG5
ABCG8
ABHD12
ABHD5
ACAD9
ACADM
ACADS
ACADSB
ACADVL
ACAT1
ACE
ACO2
ACOX1
ACP5
ACSF3
ACSL4
ACTA1
ACY1
ADA
ADAMTS10
ADAMTS13
ADAMTS17
ADAMTS2
ADAMTSL2
ADAR
ADGRG1
ADGRV1
ADSL
AFG3L2
AGA
AGK
AGL
AGPAT2
AGPS
AGT
AGTR1
AGXT
AHCY
AHI1
AICDA
AIMP1
AIPL1
AIRE
AK1
AK2
AKR1C2
ALAD
ALAS2
ALDH18A1
ALDH1A3
ALDH3A2
ALDH4A1
ALDH5A1
ALDH7A1
ALDOB
ALG1
ALG11
ALG12
ALG2
ALG3
ALG6
ALG8
ALG9
ALMS1
ALOX12B
ALPL
ALS2
ALX3
ALX4
AMACR
AMH
AMHR2
AMN
AMPD1
AMT
ANO10
ANO5
ANOS1
ANTXR2
AP3B1
AP4B1
AP4E1
APOB
APOC2
APRT
APTX
AQP2
AR
ARFGEF2
ARG1
ARL13B
ARL6
ARSA
ARSB
ARSE
ARX
ASAH1
ASL
ASNS
ASPA
ASPM
ASS1
ATF6
ATIC
ATM
ATP13A2
ATP6V0A2
ATP6V0A4
ATP6V1B1
ATP7A
ATP7B
ATP8A2
ATP8B1
ATR
ATRX
AUH
B3GALNT2
B3GALT6
B3GAT3
B3GLCT
B4GALT1
B4GAT1
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCKDHA
BCKDHB
BCOR
BCS1L
BEST1
BIN1
BLM
BLOC1S6
BMP1
BMPER
BMPR1B
BRCA2
BRIP1
BRWD3
BSCL2
BSND
BTD
BTK
BUB1B
C12orf57
C12orf65
C19orf12
C8B
CA2
CACNA1F
CANT1
CAPN3
CASK
CASQ2
CASR
CAV3
CBS
CC2D2A
CCBE1
CCDC28B
CCDC39
CCDC40
WISP3
CD19
CD3D
CD3E
CD3G
CD40LG
CD96
CDAN1
CDC45
CDC6
CDH23
CDK5RAP2
CDKL5
CDT1
CENPJ
CEP152
CEP164
CEP290
CEP41
CEP57
CERKL
CFP
CFTR
CHAT
CHM
CHMP1A
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CHST14
CHST3
CHST6
CHSY1
CIITA
CKAP2L
CLCN1
CLCN2
CLCN5
CLCN7
CLDN1
CLDN14
CLDN16
CLDN19
CLN3
CLN5
CLN6
CLN8
CLRN1
CNGA1
CNGA3
CNGB1
CNGB3
CNNM4
CNTN1
CNTNAP2
COG1
COG4
COG7
COG8
COL11A1
COL11A2
COL17A1
COL18A1
COL1A2
COL27A1
COL2A1
COL4A3
COL4A4
COL4A5
COL6A1
COL6A2
COL6A3
COL7A1
COL9A2
COLEC11
COLQ
COQ2
COQ4
COQ8A
COQ9
COX10
COX15
COX6B1
COX7B
CP
CPLANE1
CPS1
CPT1A
CPT2
CRB1
CRLF1
ISPD
CRTAP
CRYAB
CSPP1
CSTB
CTC1
CTH
CTNS
CTSA
CTSC
CTSD
CTSK
CUBN
CUL4B
CUL7
CYB5R3
CYBA
CYBB
CYP11A1
CYP11B1
CYP11B2
CYP17A1
CYP19A1
CYP1B1
CYP21A2
CYP24A1
CYP27A1
CYP27B1
CYP2U1
CYP4V2
CYP7B1
D2HGDH
DARS
DARS2
DBH
DBT
DCHS1
DCLRE1C
DCX
DDB2
DDC
DDHD2
DDX59
DES
DGUOK
DHCR24
DHCR7
DHDDS
DHH
DHODH
DIS3L2
DKC1
DLD
DLG3
DLL3
DLX5
DMD
DMP1
DNAAF1
DNAH11
DNAH5
DNAI1
DNAI2
DNAJC19
DNM2
DNMT3B
DOCK6
DOCK8
DOK7
DOLK
DPAGT1
DPM1
DPYD
DSC2
DSG1
DSP
DUOX2
DUOXA2
DYM
DYNC2H1
DYSF
EARS2
EBP
ECEL1
ECM1
EDA
EDAR
EDARADD
EDN3
EDNRB
EFEMP2
EFNB1
EGR2
EIF2AK3
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
EIF4A3
ELAC2
ELP1
EMD
EMG1
ENPP1
EOGT
EPB42
EPCAM
EPG5
EPM2A
ERBB3
ERCC1
ERCC2
ERCC3
ERCC4
ERCC5
ERCC6
ERCC8
ERLIN2
ESCO2
ESRRB
ETFA
ETFB
ETFDH
ETHE1
EVC
EVC2
EXOSC3
EYS
F11
F13A1
F2
F5
F7
F8
F9
FA2H
FAH
FAM126A
FAM161A
FAM20C
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FARS2
FAS
FASTKD2
FAT4
FBLN5
FBXL4
FECH
FERMT3
FGA
FGB
FGD1
FGD4
FGF3
FGFR2
FGFR3
FGG
FH
FHL1
FIG4
FKBP14
FKRP
FKTN
FLNA
FLNB
FLVCR2
FMO3
FMR1
FOLR1
FOXE1
FOXN1
FOXP3
FOXRED1
FRAS1
FREM1
FREM2
FRMPD4
FSHR
FTCD
FTO
FUCA1
G6PC
G6PC3
G6PD
GAA
GALC
GALE
GALK1
GALNS
GALNT3
GALT
GAMT
GAN
GATA1
GATM
GBA
GBA2
GBE1
GCDH
GCH1
GCSH
GDAP1
GDF1
GDF5
GDF6
GFM1
GH1
GHR
GIPC3
GJA1
GJB1
GJB2
GJB6
GJC2
GK
GLA
GLB1
GLDC
GLE1
GLIS3
GLRA1
GLUL
GMPPB
GNAT2
GNE
GNMT
GNPAT
GNPTAB
GNPTG
GNRHR
GNS
GP1BA
GP1BB
GP9
GPC3
GPC6
GPI
GPIHBP1
GPSM2
GRHPR
GRIA3
GRIP1
GRM1
GRN
GSS
GTF2H5
GUCY2D
GUSB
GYG1
GYS2
H6PD
HADH
HADHA
HADHB
HAL
HAMP
HAX1
HBB
HCCS
HCFC1
HDAC8
HEPACAM
HES7
HESX1
HEXA
HEXB
HFE
HGD
HGSNAT
HIBCH
HJV
HLCS
HMGCL
HMGCS2
HOGA1
HOXA2
HPD
HPGD
HPRT1
HPS1
HPS3
HPS4
HPS6
HSD11B2
HSD17B10
HSD17B3
HSD17B4
HSD3B2
HSD3B7
HSPG2
HTRA1
HUWE1
HYAL1
HYLS1
IBA57
ICK
IDS
IDUA
IER3IP1
IFNGR1
IFNGR2
IFT122
IFT140
IFT172
IFT27
IFT80
IGBP1
IGF1
IGHMBP2
IHH
IKBKG
IL12B
IL12RB1
IL1RAPL1
IL1RN
IL2RG
IL36RN
IL7R
IMPG2
INPP5E
INSR
INVS
IQCB1
IQSEC2
ITGA2B
ITGA6
ITGA8
ITGB2
ITGB3
ITGB4
IVD
IYD
JAK3
JAM3
JUP
KARS
KCNJ1
KCNJ11
KCNJ13
KCNQ1
KCNV2
KCTD7
KDM5C
KHDC3L
KIF14
KIF1A
KIF1BP
KIF4A
KIF7
KISS1R
KRT14
KRT18
KRT5
KRT8
L1CAM
L2HGDH
LAMA1
LAMA2
LAMA3
LAMB1
LAMB2
LAMB3
LAMC2
LAMC3
LAMP2
LARGE1
LARS2
LAS1L
LBR
LCA5
LCAT
LCT
LDLR
LHB
LHCGR
LHX3
LIFR
LIG4
LIPA
LMBR1
LMNA
LOXHD1
LPIN2
LPL
LRAT
LRP2
LRP4
LRP5
LRPPRC
LRRC6
LRTOMT
LTBP2
LTBP4
LYST
LZTFL1
MAK
MAN1B1
MAN2B1
MASP1
MAT1A
MBTPS2
MC2R
MCCC1
MCCC2
MCEE
MCOLN1
MCPH1
MED12
MED17
MEFV
MEGF10
MEOX1
MERTK
MESP2
MFN2
MFSD8
MGAT2
MGP
MID1
MKKS
MKS1
MLC1
MLH1
MMAA
MMAB
MMACHC
MMADHC
MMP2
MUT
MOCS1
MOCS2
MOGS
MPDU1
MPI
MPL
MPV17
MPZ
MRE11
MRPS16
MRPS22
MSH2
MSH6
MTFMT
MTHFR
MTM1
MTR
MTRR
MTTP
MUSK
MUTYH
MVK
MYD88
MYH2
MYH7
MYO15A
MYO5A
MYO5B
MYO6
MYO7A
NAA10
NAGA
NAGLU
NAGS
NBAS
NBEAL2
NBN
NCF2
NDE1
NDP
NDRG1
NDUFAF2
NDUFAF4
NDUFAF5
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NECTIN1
NEFL
NEK1
NEU1
NEUROG3
NEXMIF
NHEJ1
NHLRC1
NHS
NIN
NKX2-5
NLRP7
NMNAT1
NPC1
NPC2
NPHP1
NPHP3
NPHP4
NPHS1
NPHS2
NPR2
NR0B1
NR2E3
NSDHL
NSUN2
NT5C2
NT5C3A
NTHL1
NTRK1
NUBPL
NUP62
OAT
OCA2
OCLN
OCRL
OFD1
OPA3
OPHN1
OPTN
ORAI1
ORC1
ORC4
ORC6
OSTM1
OTC
OTOA
OTOF
OXCT1
P3H1
PAH
PAK3
PANK2
PAPSS2
PARK7
PAX3
PC
C2orf71
PCBD1
PCCA
PCCB
PCDH15
PCDH19
PCNT
PDE6A
PDE6B
PDE6C
PDE6D
PDE6H
PDHA1
PDHB
PDHX
PDP1
PDSS1
PDSS2
PDX1
PEPD
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PFKM
PGK1
PGM1
PHF6
PHF8
PHGDH
PHKB
PHYH
PIEZO2
PIGA
PIGL
PIGV
PINK1
PIP5K1C
PKHD1
PKLR
PLA2G6
PLCB4
PLCE1
PLEC
PLEKHG5
PLG
PLK4
PLOD1
PLOD3
PLP1
PMM2
PMP22
PMS2
PNKP
PNP
PNPLA2
PNPLA6
PNPO
POLG
POLH
POLR1C
POLR3A
POLR3B
POMC
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POR
PORCN
POU1F1
POU3F4
PPIB
PPT1
PQBP1
PRDM5
PREPL
PRF1
PRG4
PRKN
PROC
PRODH
PROM1
PROP1
PROS1
PRPH2
PRPS1
PRRX1
PRSS56
PRX
PSAP
PSAT1
PTH1R
PTS
PUS1
PYCR1
PYGL
PYGM
RAB18
RAB23
RAB27A
RAB3GAP1
RAB3GAP2
RAD51C
RAG1
RAG2
RAPSN
RARS2
RAX
RBM10
RBM8A
RD3
RDH12
RECQL4
RELN
REN
RFT1
RFX6
RHO
RIPK4
RLBP1
RMND1
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNU4ATAC
ROGDI
ROR2
RP1
RP2
RPE65
RPGR
RPGRIP1
RPGRIP1L
RPL10
RPS6KA3
RRM2B
RS1
RSPH4A
RTEL1
RTTN
RXYLT1
RYR1
SACS
SAMHD1
SBDS
SC5D
SCARB2
SCARF2
SCN4A
SCN5A
SCN9A
SCNN1A
SCNN1B
SCNN1G
SCO1
SCO2
SDCCAG8
SDHA
SDHD
SEC23A
SEC23B
SELENON
SEPSECS
SERPINA1
SERPINF1
SETX
SFTPB
SGCA
SGCB
SGCD
SGCG
SGSH
SH2D1A
SH3PXD2B
SH3TC2
SHROOM4
SI
SIL1
SIX6
SLC12A1
SLC12A3
SLC12A6
SLC16A1
SLC16A2
SLC17A5
SLC19A3
SLC22A12
SLC22A5
SLC25A13
SLC25A15
SLC25A19
SLC25A20
SLC25A22
SLC25A4
SLC26A2
SLC26A3
SLC26A4
SLC27A4
SLC2A1
SLC2A10
SLC2A2
SLC2A9
SLC30A10
SLC34A2
SLC35A1
SLC35A2
SLC35A3
SLC35C1
SLC35D1
SLC37A4
SLC39A4
SLC3A1
SLC45A2
SLC46A1
SLC4A1
SLC4A11
SLC52A3
SLC5A5
SLC6A3
SLC6A5
SLC6A8
SLC7A7
SLC7A9
SLC9A6
SLX4
SMARCAL1
SMC1A
SMN1
SMN2
SMOC1
SMPD1
SMS
SNAP29
SNIP1
SOD1
SOX3
SP110
SPATA7
SPG11
SPG7
SPINT2
SPR
SPTBN2
SRD5A2
SRD5A3
ST3GAL3
ST3GAL5
STAC3
STAMBP
STAR
STAT1
STIL
STIM1
STRA6
STS
STX11
STXBP2
SUCLA2
SUCLG1
SUMF1
SUOX
SURF1
SYN1
SYNE1
SYP
TACR3
TACSTD2
TAF2
TAT
TAZ
TBC1D20
TBC1D24
TBCE
TBX15
TBX22
TBX6
TCAP
TCIRG1
TCTN1
TCTN2
TCTN3
TECPR2
TECTA
TERT
TFR2
TG
TGM1
TH
TIMM8A
TJP2
TK2
TMC1
TMCO1
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TMEM70
TMIE
TMPRSS3
TNFRSF11A
TNFRSF11B
TNFRSF13B
TNNT1
TNXB
TPI1
TPK1
TPM3
TPO
TPP1
TRAPPC9
TREM2
TREX1
TRIM32
TRIM37
TRIOBP
TRIP11
TRMU
TRPM6
TSEN2
TSEN34
TSEN54
TSFM
TSHB
TSHR
TSPAN7
TSPYL1
TTC19
TTC21B
TTC8
TTPA
TUBA8
TUBGCP6
TUFM
TULP1
TUSC3
TWNK
TYK2
TYMP
TYR
TYROBP
UBA1
UBE3B
UBR1
UGT1A1
UNC13D
UPF3B
UQCRB
UQCRQ
UROS
USH1C
USH1G
USH2A
USP9X
VAX1
VDR
VIPAS39
VLDLR
VPS13A
VPS13B
VPS33B
VPS45
VRK1
VSX2
VWF
WAS
WASHC5
WDPCP
WDR19
WDR34
WDR35
WDR60
WDR62
WDR81
WFS1
WHRN
WNK1
WNT10A
WNT10B
WNT3
WNT4
WNT7A
WRN
WWOX
XPA
XPC
XRCC4
XYLT1
YARS2
ZAP70
ZDHHC9
ZFYVE26
ZIC3
ZMPSTE24
ZNF423
ZNF469