GENE PANELS
MENDELIOME - NEURODEVELOPMENTAL DISORDERS
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 - Neurodevelopmental Disorders
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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
A2ML1
ABCC6
ABCC9
ABCD1
ABCD4
ABCG5
ABHD5
ABI2
ACAD9
ACAT1
ACO2
ACOX1
ACSF3
ACSL4
ACTB
ACTG1
ACVR1
ACY1
ADAR
ADAT3
ADCY5
ADGRG1
ADK
ADNP
ADRA2B
ADSL
AFF2
AFF3
AFP
AGA
AGBL4
AGL
AGPAT2
AGT
AGTR2
AHCY
AHDC1
AHI1
AIFM1
AIMP1
AK1
AKT1
AKT1S1
AKT3
ALDH18A1
ALDH3A2
ALDH4A1
ALDH5A1
ALG1
ALG11
ALG12
ALG13
ALG2
ALG3
ALG6
ALG9
ALX1
ALX4
AMER1
AMPD2
AMT
ANK2
ANK3
ANKH
ANKRD11
ANO10
ANO3
ANO5
ANTXR1
AP1S1
AP1S2
AP3B1
AP4B1
AP4E1
AP4M1
AP4S1
APAF1
APC
APTX
AQP7
AR
ARFGEF2
ARG1
ARHGEF4
ARHGEF6
ARHGEF7
ARHGEF9
ARID1A
ARID1B
ARID2
ARL13B
ARL6
ARSE
ARX
ASH1L
ASL
ASNS
ASPA
ASPM
ASS1
ASTN2
ASXL1
ASXL3
ATIC
ATL1
ATM
ATP13A2
ATP1A2
ATP2A2
ATP6AP2
ATP6V0A2
ATP7A
ATP8A2
ATR
ATRX
ATXN1
AUH
AUTS2
AVP
AVPR2
AXIN1
B3GLCT
B4GALT1
B4GALT7
BBS1
BBS10
BBS12
BBS2
BBS4
BBS5
BBS7
BBS9
BCKDHA
BCKDHB
BCL11A
BCOR
BCS1L
BIN1
BIRC6
BLM
BRAF
BRCA2
BRIP1
BRWD3
BSCL2
BTD
BUB1B
C12orf57
C12orf65
CA2
CA8
CACNA1A
CACNA1B
CACNA1C
CACNA1D
CACNA1F
CACNA1G
CACNA1H
CACNA2D3
CACNB2
CACNG2
CALM1
CAMK2B
CAMTA1
CANT1
CASK
CBL
CBS
CC2D1A
CC2D2A
CCAR2
CCBE1
CCDC22
CCDC39
CCDC78
CCDC88C
CCNT1
CCSER1
CD163L1
CDH15
CDK5RAP2
CDK6
CDKL5
CDKN1C
CDON
CELSR1
CENPE
CENPJ
CEP135
CEP152
CEP290
CEP41
CEP55
CEP57
CFAP53
CHAMP1
CHAT
CHD1
CHD2
CHD3
CHD7
CHD8
CHKB
CHRNA2
CHRNA4
CHRND
CIC
CLCN4
CLCN7
CLCNKB
CLIC2
CLIP1
CLN3
CLN5
CLN6
CLN8
CLTC
CMIP
CNKSR2
CNOT1
CNOT3
CNOT4
CNOT6
CNTN3
CNTN4
CNTNAP2
COG1
COG5
COG6
COG7
COG8
COL11A1
COL1A2
COL4A1
COL4A2
COL4A3BP
COLEC11
COQ2
COQ8A
COX10
COX15
CP
CPA6
CPLANE1
CPS1
CRADD
CRBN
CREB1
CREBBP
CRPPA
CSTF2T
CTC1
CTCF
CTDP1
CTNNB1
CTNND2
CTSA
CTSD
CTTNBP2
CUBN
CUL3
CUL4B
CUL5
CUX2
CYB5R3
CYFIP1
CYP27A1
D2HGDH
DAB1
DAG1
DAGLA
DARS2
DBT
DCAF17
DCLK2
DCX
DDHD2
DDX11
DDX3X
DEAF1
DHCR24
DHCR7
DHDDS
DHFR
DHTKD1
DHX9
DIAPH1
DIAPH3
DIP2A
DIP2B
DIPK2A
DISC1
DKC1
DLD
DLG2
DLG3
DLG4
DMD
DMPK
DNAH5
DNAJC19
DNM1
DNMT1
DNMT3A
DNMT3B
DOCK8
DPAGT1
DPM1
DPP6
DPYD
DSCAM
DST
DUSP15
DYM
DYNC1H1
DYRK1A
EBP
ECM2
EFCAB5
EFNB1
EFTUD2
EHMT1
EIF2AK3
EIF2S3
EIF3G
EIF4A1
EIF4G1
ELK1
ELOVL4
ELP2
EML1
EMX2
EN2
EP300
EP400
EPB41L1
EPHA5
EPHB2
ERBB4
ERCC2
ERCC3
ERCC5
ERCC6
ERCC8
ERLIN2
ESCO2
ETFB
ETHE1
EXOSC3
EXT1
EZH2
EZR
F5
FAAH2
FAM126A
FANCB
FANCD2
FANCG
FBLN5
FBN1
FBN2
FBXO31
FBXO33
FEZF2
FGD1
FGF12
FGF14
FGFR1
FGFR2
FGFR3
FH
FIGN
FKRP
FKTN
FLG
FLNA
FLVCR1
FMN2
FMR1
FOLR1
FOXG1
FOXP1
FOXP2
FOXP3
FRAS1
FRMPD4
FTCD
FTO
FTSJ1
FUCA1
G6PC3
GABRA1
GABRA5
GABRB2
GABRB3
GABRG2
GABRG3
GAD1
GALE
GALK1
GALNT18
GALT
GAMT
GAN
GARS
GAS2
GATAD2B
GATM
GBA
GBE1
GCH1
GCK
GCOM1
GCSH
GDI1
GFAP
GFM1
GHR
GIGYF1
GJB1
GJB6
GJC2
GK
GLB1
GLDC
GLI2
GLI3
GLO1
GLRA1
GLUL
GLYCTK
GM2A
GMPPA
GMPPB
GNAO1
GNAQ
GNAS
GNPAT
GNPTAB
GNPTG
GNRHR
GNS
GORASP2
GP1BB
GPC3
GPHN
GPR37
GPT2
GRIA3
GRID2
GRIK2
GRIN1
GRIN2A
GRIN2B
GRIN3B
GRM1
GSE1
GSPT2
GSS
GTF2H5
GTF2IRD1
GTF3C1
GUSB
GYS2
HAL
HAX1
HCCS
HCFC1
HCN1
HDAC4
HDAC6
HDAC8
HDAC9
HECTD1
HECW2
HEPACAM
HERC1
HERC2
HESX1
HEXA
HEXB
HIST1H4B
HIVEP2
HLCS
HMGA2
HNRNPU
HNRNPUL1
HOXA1
HOXB1
HOXD10
HPD
HPRT1
HRAS
HSD17B10
HSPA4
HSPD1
HTR2A
HUWE1
IDH2
IDS
IDUA
IER3IP1
IFT172
IGBP1
IGF1
IGF1R
IKBKG
IL1RAPL1
ILF2
INPP5E
INSR
IQSEC2
IRS1
IRX5
ITGA7
ITGB3
ITPR1
JADE2
JAG1
JAM3
JUP
KANK1
KANSL1
KAT6A
KAT6B
KATNAL2
KCNA1
KCNH1
KCNJ10
KCNJ11
KCNK9
KCNMA1
KCNQ2
KCNQ3
KCNQ4
KCNT1
KCTD7
KDM5A
KDM5B
KDM5C
KDM6A
KDM6B
KIAA1109
KIF11
KIF1A
KIF1BP
KIF21A
KIF2A
KIF4A
KIF5A
KIF5C
KIF7
KIRREL3
KIT
KLC2
KLF8
KMT2A
KMT2C
KMT2D
KMT2E
KMT5B
KPTN
KRAS
KRBOX4
KRT24
L1CAM
L2HGDH
LAMA1
LAMA2
LAMB1
LAMC3
LAMP2
LARGE1
LARP7
LAS1L
LBR
LCT
LHX3
LIG4
LINS1
LMBRD1
LRP1
LRP2
LRP5
LRPPRC
LRRC7
LYST
MACF1
MAGEL2
MAGT1
MAN1B1
MAN2B1
MANBA
MAOA
MAP2
MAP2K1
MAP2K2
MAPK1
MAPT
MAT1A
MBD3
MBD5
MBTPS2
MCCC1
MCCC2
MCOLN1
MCPH1
MDM2
MECP2
MED12
MED13L
MED17
MED23
MEF2C
MET
METTL23
MFRP
MFSD8
MGAT2
MIB1
MID1
MID2
MIR222
MKKS
MLH1
MLYCD
MMAA
MMACHC
MMADHC
MMUT
MOCS1
MOCS2
MOGS
MPDU1
MPDZ
MPHOSPH8
MPI
MPLKIP
MPZ
MRAP
MRPS22
MSH6
MTFMT
MTHFR
MTHFS
MTM1
MTMR2
MTR
MTRR
MVK
MYCN
MYH14
MYH9
MYO1E
MYO3A
MYO5A
MYO7A
MYOC
MYT1L
NAA10
NAA15
NAGA
NAGLU
NALCN
NBN
NCKAP1
NDE1
NDP
NDST1
NDUFA1
NDUFA11
NDUFA12
NDUFAF5
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NECTIN1
NEDD4L
NEU1
NEXMIF
NF1
NFATC1
NFIA
NFIX
NGF
NHEJ1
NHP2
NHS
NIPBL
NKX2-1
NLGN1
NLGN3
NLGN4X
NLGN4Y
NLRP3
NOG
NOTCH3
NPC1
NPC2
NPHP1
NPHP3
NR2F1
NR3C2
NR4A2
NRAS
NRCAM
NRXN1
NRXN2
NSD1
NSD2
NSDHL
NSUN2
NTRK1
NTRK2
NUAK1
NUS1
NXF5
OBSL1
OCA2
OCLN
OCRL
OFD1
OPHN1
ORC1
OTC
OXTR
PACS1
PAFAH1B1
PAH
PAK3
PANK2
PARP1
PAX1
PAX5
PAX6
PAX8
PBRM1
PC
PCDH10
PCDH19
PCGF2
PCNT
PDE1C
PDE4D
PDE8B
PDHA1
PDHX
PDSS1
PDSS2
PEPD
PER2
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGA5
PGAP1
PGAP2
PGAP3
PGK1
PHF2
PHF21A
PHF6
PHF8
PHGDH
PHIP
PHKA2
PHKG2
PIAS1
PIGA
PIGL
PIGN
PIGO
PIGT
PIGV
PIK3R2
PLA2G6
PLCB1
PLP1
PMM2
PNKP
PNP
POC1A
POGZ
POLG
POLR2M
POLR3A
POLR3B
POMGNT1
POMGNT2
POMT1
POMT2
PORCN
POT1
POU1F1
POU3F4
PPM1D
PPOX
PPP1R1B
PPP2R1A
PPP2R5D
PPT1
PQBP1
PRICKLE1
PRKAR1A
PRKRA
PRODH
PRPS1
PRRT2
PRSS12
PSAP
PSEN1
PTCH1
PTCHD1
PTDSS1
PTEN
PTHLH
PTPN11
PUF60
PURA
PUS1
PYCR1
PYGL
RAB11A
RAB18
RAB27A
RAB39B
RAB3GAP1
RAB3GAP2
RAB40AL
RABL6
RAC1
RAD21
RAF1
RAI1
RALGDS
RANBP17
RAPSN
RARS2
RASGEF1B
RAX
RBBP8
RBFOX1
RBL2
RBM10
RBM28
RELN
RERE
RFT1
RFX3
RFX6
RIC8A
RIMS1
RIT1
RMND1
RMRP
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNF213
ROGDI
RP2
RPGRIP1L
RPL10
RPS6KA2
RPS6KA3
RTEL1
RTN2
RUBCN
RUNX1
RUVBL1
RYR1
RYR2
S100G
SACS
SALL1
SAMHD1
SARS
SATB2
SBF1
SC5D
SCAPER
SCN1A
SCN2A
SCN7A
SCN8A
SCN9A
SCO2
SDCCAG8
SDHA
SDK1
SERAC1
SERPINB12
SETBP1
SETD5
SF1
SFPQ
SGCA
SGSH
SHANK1
SHANK2
SHANK3
SHH
SHOC2
SHOX
SHROOM4
SIL1
SIN3A
SIX3
SKI
SLC12A6
SLC16A2
SLC17A5
SLC1A1
SLC1A4
SLC20A2
SLC24A2
SLC25A1
SLC25A12
SLC25A13
SLC25A15
SLC25A22
SLC25A24
SLC26A9
SLC2A1
SLC2A2
SLC33A1
SLC35A2
SLC35C1
SLC46A1
SLC4A4
SLC5A2
SLC5A5
SLC6A1
SLC6A17
SLC6A3
SLC6A4
SLC6A8
SLC7A7
SLC9A6
SLC9A9
SLCO1B1
SLCO1B3
SLX4
SMAD2
SMAD4
SMARCA2
SMARCA4
SMARCB1
SMARCC2
SMARCE1
SMC1A
SMC3
SMG6
SMOC1
SMPD1
SMS
SNAP29
SNIP1
SNX14
SNX19
SOBP
SOS1
SOX10
SOX11
SOX2
SOX3
SOX5
SPAST
SPG11
SPG7
SPR
SPRED1
SPTAN1
SPTLC1
SRCAP
SRD5A3
SREBF2
SRGAP3
SRPX2
ST3GAL3
ST3GAL5
STAG1
STAT5B
STIL
STRA6
STS
STT3A
STT3B
STX11
STXBP1
STXBP5
SUCLA2
SUCLG1
SUOX
SUPT16H
SURF1
SYN1
SYNE1
SYNGAP1
SYP
SYT14
SYT3
TAF1
TAF2
TAT
TBC1D24
TBC1D7
TBCE
TBR1
TBX1
TCF20
TCF3
TCF4
TCF7L2
TECR
TENM1
TFAP2A
TGFBR1
TGFBR2
TGIF1
TGM1
TH
THOC2
THOC6
THRA
THRB
TIMM8A
TINF2
TMCO1
TMEM107
TMEM135
TMEM165
TMEM216
TMEM231
TMEM237
TMEM67
TMEM70
TMLHE
TNK2
TNRC6B
TOPORS
TOR1A
TPH2
TPK1
TPO
TPP1
TRAPPC10
TRAPPC11
TRAPPC9
TREX1
TRHR
TRIM10
TRIM3
TRIM32
TRIO
TRIP12
TRMT10A
TRPM6
TRPV4
TSC1
TSC2
TSEN54
TSHR
TSPAN7
TSPOAP1
TTC37
TTC8
TTI1
TTI2
TTR
TUBA1A
TUBA8
TUBB2B
TUBB3
TUBGCP6
TUSC3
TWIST1
UBE2A
UBE3A
UBE3B
UBR1
UBTF
UPB1
UPF3B
UROC1
USP9X
UTP6
VCP
VLDLR
VPS13B
VPS39
VPS4A
VRK1
WAC
WASHC4
WDFY3
WDR11
WDR13
WDR19
WDR26
WDR45
WDR45B
WDR62
WDR81
WNT2
WRN
WWOX
XPA
XPNPEP3
XPO5
XYLT1
YAP1
YEATS2
YWHAE
YY1
ZBTB16
ZBTB18
ZBTB20
ZBTB24
ZC3H14
ZC3H4
ZCCHC12
ZDHHC15
ZDHHC9
ZEB2
ZFHX4
ZFP57
ZFYVE26
ZIC2
ZMYM3
ZMYND11
ZNF292
ZNF407
ZNF41
ZNF526
ZNF559
ZNF592
ZNF594
ZNF599
ZNF674
ZNF697
ZNF711
ZNF774
ZNF8
ZNF81
ZNF827