GENE PANELS
MENDELIOME - CONGENITAL MALFORMATIONS
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
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Genome-wide genetic testing - Non-expert EN
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Analyses génomiques - Non-experts FR
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Genoomonderzoek in de genetica - Niet-expert NL
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Genelist Mendeliome - Congenital Malformations
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Genoomonderzoek in de genetica - Expert NL
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Genome-wide genetic testing - Expert EN
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Verzendinstructies DNA stalen - NL
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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
ABAT
ABCC6
ABCD1
ABCD3
ABL1
ACAN
ACO2
ACTA1
ACTB
ACTG1
ADAMTS10
ADAMTS17
ADAMTSL2
ADAR
ADGRG1
ADGRG6
ADSL
AHI1
AIMP1
AIPL1
AIRE
AKR1C2
AKT1
AKT3
ALDH1A3
ALMS1
ALPL
ALX1
ALX3
ALX4
AMER1
AMT
ANKRD11
ANOS1
ANTXR2
AP4B1
AR
ARFGEF2
ARHGAP31
ARID1A
ARID1B
ARL13B
ARL6
ARVCF
ARX
ASNS
ASPA
ASPM
ASS1
ASXL1
ATL1
ATM
ATP6V0A2
ATP7A
ATP8A2
ATR
ATRX
ATXN10
B3GALNT2
B3GALT6
B3GAT3
B3GLCT
B4GALT1
B4GAT1
B9D1
B9D2
BBIP1
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCOR
BDNF
BIN1
BMP2
BMP4
BMPER
BMPR1B
BRAF
BRIP1
BSND
BUB1
BUB1B
BUB3
C12orf57
CACNA1A
CASK
CBL
CC2D2A
CCBE1
CCDC28B
CCM2
CCNQ
CD96
CDC6
CDH1
CDKL5
CDKN1C
CDON
CDT1
CENPF
CEP164
CEP290
CEP41
CEP57
CFTR
CHAT
CHD7
CHMP1A
CHN1
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CHST14
CHST3
CHSY1
CHUK
CKAP2L
CNTN1
COG4
COL11A1
COL11A2
COL18A1
COL1A1
COL1A2
COL2A1
COL3A1
COL4A1
COL5A1
COL5A2
COL6A1
COL6A2
COL6A3
COL7A1
COL9A1
COL9A2
COLEC11
COMT
COX7B
CPLANE1
CPT2
CRB1
CREBBP
CRH
CRLF1
CRPPA
CRX
CSPP1
CTCF
CTNS
CTSA
CUL7
CXCR4
CYP11B1
CYP17A1
CYP19A1
CYP21A2
CYP2U1
DARS
DCHS1
DCX
DDHD2
DDX59
DHCR24
DHCR7
DHH
DHODH
DIS3L2
DKC1
DLL3
DLX5
DMD
DMPK
DNM2
DOCK6
DOK7
DPYD
DSP
DUSP6
DYM
DYNC1H1
DYNC2H1
EARS2
EBP
ECEL1
EFNB1
EFTUD2
EGR2
EHMT1
EIF2AK3
EIF4A3
EMD
EMG1
EMX2
EOGT
EP300
EPG5
EPHX1
ERBB3
ERCC1
ERCC2
ERCC4
ERCC5
ERCC6
ERLIN2
ESCO2
EVC
EVC2
EYA1
EZH2
FA2H
FAM111A
FAM20C
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FAT4
FBN1
FBN2
FBXL4
FGD1
FGF10
FGF17
FGF8
FGF9
FGFR1
FGFR2
FGFR3
FH
FIG4
FKBP14
FKRP
FKTN
FLNA
FLNB
FLRT3
FLT4
FLVCR2
FOXC1
FOXC2
FOXE1
FOXG1
FRAS1
FREM1
FREM2
FTO
FUZ
G6PC3
GAA
GATA1
GATA4
GATA6
GBA
GBA2
GBE1
GCSH
GDF1
GDF3
GDF5
GDF6
GFAP
GFM1
GJA1
GJB2
GJC2
GLDC
GLE1
GLI2
GLI3
GLUL
GMPPB
GNAI3
GNAO1
GNPTAB
GNPTG
GP1BB
GPC3
GPC6
GPI
GPSM2
GRHL3
GRIP1
GRM1
GUCY2D
GUSB
H19
HADHA
HADHB
HCCS
HDAC8
HES7
HESX1
HIBCH
HIRA
HOXA11
HOXA13
HOXA2
HOXD13
HPGD
HRAS
HS6ST1
HSD17B3
HSD17B4
HSPG2
HYAL1
HYLS1
IBA57
ICK
IDS
IDUA
IER3IP1
IFIH1
IFT172
IFT27
IFT80
IFT88
IGBP1
IGHMBP2
IHH
IKBKG
IL10
IL17RD
IMPDH1
INPP5E
INSR
IQCB1
IRF6
ITGA6
ITGA8
ITGB4
ITPR1
JAG1
JAM3
JUP
KANSL1
KAT6B
KCNA1
KCNJ13
KCNJ2
KCNK9
KCNQ1OT1
KCNQ2
KCNT1
KCTD1
KCTD7
KDM6A
KIF14
KIF1A
KIF1BP
KIF2A
KIF5C
KIF7
KISS1R
KMT2D
KRAS
L1CAM
L2HGDH
LAMA2
LAMB1
LAMC3
LARGE1
LBR
LCA5
LEMD3
LFNG
LHB
LHX3
LHX4
LIFR
LMBR1
LMNA
LMNB1
LMX1B
LRAT
LRP2
LRP4
LZTFL1
MAP2K1
MAP2K2
MAP3K1
MASP1
MBTPS2
MCOLN1
MCPH1
MED12
MEF2C
MEGF10
MEOX1
MESP2
MFRP
MGP
MID1
MIPOL1
MKKS
MKS1
MLH1
MOCS1
MOCS2
MPL
MPZ
MRPS16
MRPS22
MSH2
MSH6
MSX1
MSX2
MTM1
MUSK
MVK
MYBPC1
MYH2
MYH3
MYH8
MYOD1
NAA10
NBN
NDE1
NEB
NECTIN1
NEK1
NEXMIF
NF1
NFIX
NIN
NIPBL
NKX2-5
NMNAT1
NODAL
NOG
NOTCH2
NPC1
NPC2
NPHP1
NPHP3
NPR2
NR0B1
NR5A1
NRAS
NSD1
NSDHL
NSMF
NT5C2
OBSL1
OCLN
OCRL
OFD1
OPHN1
ORC1
ORC4
ORC6
OTX2
PAFAH1B1
PALB2
PAX2
PAX3
PAX6
PCNT
PDE4D
PDE6D
PDGFB
PDGFRB
PDHA1
PDHB
PDHX
PDYN
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PFKM
PGM1
PHF6
PHF8
PIGA
PIGL
PIGV
PIK3CA
PIK3R2
PIP5K1C
PITX1
PKHD1
PLCB4
PLEC
PLK4
PLOD1
PLOD3
PLP1
PMM2
PMP22
PMS2
PNKP
POLR1C
POLR1D
POLR3A
POMGNT1
POMGNT2
POMK
POMT1
POMT2
POR
PORCN
POU1F1
PQBP1
PRDM5
PRG4
PRKAR1A
PROK2
PROKR2
PROP1
PRRX1
PRSS56
PRX
PSAP
PSAT1
PTCH1
PTCH2
PTDSS1
PTEN
PTH1R
PTPN11
PYCR1
RAB18
RAB23
RAB3GAP1
RAB3GAP2
RAB40AL
RAD21
RAD51C
RAF1
RAI1
RAPSN
RAX
RB1
RBM10
RBM8A
RD3
RDH12
RECQL4
RELN
RET
RIPK4
RIT1
RMND1
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNU4ATAC
ROR2
RPE65
RPGRIP1
RPGRIP1L
RPL11
RPL15
RPL26
RPL35A
RPL5
RPS10
RPS17
RPS19
RPS24
RPS26
RPS6KA3
RPS7
RTTN
RUNX2
RXYLT1
RYR1
SACS
SALL1
SALL4
SAMHD1
SATB2
SC5D
SCARF2
SDCCAG8
SEC23A
SELENON
SEMA3A
SEMA3E
SEPSECS
SEPTIN9
SETBP1
SF3B4
SH3PXD2B
SHANK3
SHH
SHOC2
SIX1
SIX3
SIX5
SIX6
SKI
SLC12A1
SLC12A6
SLC20A2
SLC25A19
SLC26A2
SLC2A10
SLC35A2
SLC35A3
SLC35D1
SLC6A8
SLC9A6
SLX4
SMAD3
SMAD4
SMARCA4
SMARCB1
SMARCE1
SMC1A
SMC3
SMOC1
SMS
SNAP29
SNIP1
SOS1
SOX10
SOX2
SOX3
SOX9
SPATA7
SPECC1L
SPG11
SPRED1
SPRY4
SPTAN1
SRD5A2
SRD5A3
SRY
STAC3
STAMBP
STAT3
STS
STXBP1
SUFU
SUMO1
SYNE1
TACR3
TAF2
TAZ
TBC1D20
TBX1
TBX15
TBX22
TBX3
TBX4
TBX5
TBX6
TBXT
TCF4
TCOF1
TCTN1
TCTN2
TCTN3
TECPR2
TFAP2A
TGFB3
TGFBR1
TGFBR2
TGIF1
TMCO1
TMEM138
TMEM216
TMEM231
TMEM237
TMEM67
TMEM70
TNNI2
TNNT3
TNXB
TP63
TPM2
TRAPPC9
TREM2
TREX1
TRIM32
TRIP11
TRPV4
TSC1
TSC2
TSEN34
TSEN54
TSPYL1
TTC8
TUBA1A
TUBA8
TUBB2B
TUBB3
TUBGCP6
TULP1
TWIST1
TYR
TYROBP
UBA1
UBB
UBE3A
UBE3B
UFD1
UPF3B
UPK3A
UTRN
VANGL1
VANGL2
VAX1
VIPAS39
VPS13B
VPS33B
VSX2
VTI1A
WASHC5
WDPCP
WDR11
WDR19
WDR34
WDR35
WDR60
WDR62
WDR81
WNT10B
WNT3
WNT4
WNT5A
WNT7A
WT1
WWOX
ZBTB18
ZDHHC9
ZEB2
ZFPM2
ZFYVE26
ZIC1
ZIC2
ZMPSTE24
ZNF423
ZNF469