GENE PANELS
MENDELIOME - EPILEPSY
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 Mendeliome - Epilepsy
11
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
AARS1
AASS
ABAT
ABCB1
ABCC8
ABCD1
ACADM
ACADS
ACADSB
ACO2
ACOX1
ACSF3
ACTB
ACTG1
ACVR1
ACY1
ADAR
ADGRG1
ADGRV1
ADK
ADRA2B
ADSL
AFG3L2
AGA
AGTR2
AHI1
AIFM1
AIMP1
AKT2
AKT3
ALDH18A1
ALDH3A2
ALDH4A1
ALDH5A1
ALDH7A1
ALG1
ALG11
ALG12
ALG13
ALG2
ALG3
ALG6
ALG8
ALG9
ALMS1
AMACR
AMER1
AMT
ANKH
ANKRD11
AP3B2
AP4E1
APTX
AR
ARFGEF2
ARG1
ARHGEF15
ARHGEF9
ARID1A
ARID1B
ARL13B
ARSA
ARSB
ARX
ASAH1
ASL
ASNS
ASPA
ASPM
ASS1
ASXL1
ATIC
ATN1
ATP1A2
ATP1A3
ATP2A2
ATP5F1A
ATP6AP2
ATP6V0A2
ATP7A
ATPAF2
ATR
ATRX
ATXN10
AUH
AVPR2
B3GALNT2
B3GNT2
B4GALT1
B4GAT1
BCAP31
BCKDHA
BCKDHB
BCKDK
BCS1L
BOLA3
BRAF
BRAT1
BRD2
BTD
BUB1B
C12orf57
C12orf65
CACNA1A
CACNA1D
CACNA1H
CACNA2D1
CACNA2D2
CACNB4
CAMK2B
CASK
CASQ2
CASR
CBL
CBS
CC2D2A
CCBE1
CCDC88C
CCL2
CCM2
CDK5RAP2
CDKL5
CDON
CELSR1
CENPJ
CEP135
CEP152
CEP164
CEP290
CEP41
CEP63
CERS1
CHD2
CHD8
CHKB
CHMP1A
CHRNA2
CHRNA4
CHRNA7
CHRNB2
CLCN1
CLCN2
CLCN4
CLCNKA
CLCNKB
CLDN16
CLIC2
CLN3
CLN5
CLN6
CLN8
CLPP
CNTN2
CNTNAP2
COA5
COG1
COG4
COG5
COG6
COG7
COG8
COL18A1
COL4A1
COL4A2
COQ2
COQ6
COQ8A
COQ9
COX10
COX14
COX15
COX20
COX6B1
CPA6
CPLANE1
CPS1
CPT2
CRH
CRLF1
CRPPA
CSNK1G1
CSPP1
CSTB
CTC1
CTSA
CTSD
CTSF
CUL4B
CYP27A1
CYP27B1
D2HGDH
DBT
DCHS1
DCX
DDC
DDOST
DEPDC5
DHCR24
DHCR7
DHDDS
DHFR
DLD
DLGAP2
DMD
DNAJC5
DNAJC6
DNM1
DOCK6
DOCK7
DOLK
DPAGT1
DPM1
DPM2
DPM3
DPYD
DPYS
DYNC1H1
DYRK1A
EARS2
ECM1
EEF1A2
EFHC1
EFHC2
EFTUD2
EHMT1
EIF2B1
EIF2B2
EIF2B3
EIF2B4
EIF2B5
ELOVL4
ELP1
ELP4
EMX2
EOMES
EPG5
EPM2A
ERLIN2
ERMARD
ETFA
ETFB
ETFDH
ETHE1
EXOC6B
EXOSC3
EZH2
FA2H
FADD
FAM126A
FARS2
FASTKD2
FAT4
FBXL4
FGD1
FGF8
FGFR3
FH
FKRP
FKTN
FLNA
FLVCR2
FMR1
FOLR1
FOXG1
FOXH1
FTO
FUCA1
GABBR2
GABRA1
GABRB2
GABRB3
GABRD
GABRG2
GAL
GALC
GALNS
GAMT
GATA3
GATA6
GATM
GBA
GCDH
GCH1
GCK
GCM2
GCSH
GFAP
GFM1
GJC2
GLA
GLB1
GLDC
GLI2
GLI3
GLRA1
GLRB
GLUD1
GLUL
GLYCTK
GM2A
GMPPB
GNAO1
GNE
GNPTAB
GNPTG
GNS
GOSR2
GPC3
GPHN
GRIA3
GRIN1
GRIN2A
GRIN2B
GRINA
GRN
GTPBP3
GUSB
HADH
HAX1
HCCS
HCFC1
HCN1
HCN4
HDAC4
HDAC8
HEPACAM
HERC2
HESX1
HEXA
HEXB
HGSNAT
HLCS
HMBS
HNRNPU
HPD
HRAS
HSD17B10
HSD17B4
HSPD1
HYAL1
IDH2
IDS
IDUA
IER3IP1
INPP5E
INS
INSR
IQSEC2
IVD
JAM3
JRK
KANSL1
KAT6A
KAT6B
KCNA1
KCNA2
KCNAB1
KCNB1
KCNC1
KCND2
KCNH1
KCNH2
KCNH5
KCNJ1
KCNJ10
KCNJ11
KCNK18
KCNMA1
KCNQ2
KCNQ3
KCNT1
KCNV2
KCTD7
KDM5C
KDM6A
KIF11
KIF1BP
KIF2A
KIF4A
KIF5C
KIF7
KMT2B
KMT2D
KNL1
KPTN
KRAS
KRIT1
L1CAM
L2HGDH
LAMA2
LAMB1
LAMC3
LARGE1
LBR
LGI1
LIAS
LIG1
LIG4
LMBRD1
LRFN1
LRFN2
LRFN3
LRFN4
LRFN5
LRP2
LRPPRC
MAGI2
MAGT1
MAN1B1
MAP2K1
MAP2K2
MAPK10
MBD5
MBTPS2
MCCC1
MCOLN1
MCPH1
ME2
MECP2
MED12
MED17
MEF2C
MFSD8
MGAT2
MGME1
MLC1
MLYCD
MMACHC
MMADHC
MMUT
MOCS1
MOCS2
MOGS
MPDU1
MPDZ
MPI
MSX2
MTHFR
MTOR
MTR
MTRR
MYO5A
NAA10
NAGA
NAGLU
NALCN
NDE1
NDP
NDUFA1
NDUFA10
NDUFA11
NDUFA12
NDUFA2
NDUFA9
NDUFAF1
NDUFAF2
NDUFAF3
NDUFAF4
NDUFAF5
NDUFAF6
NDUFB3
NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS6
NDUFS7
NDUFS8
NDUFV1
NDUFV2
NECAP1
NEDD4L
NEU1
NEXMIF
NF1
NFIX
NGLY1
NHEJ1
NHLRC1
NIN
NIPA2
NIPBL
NLGN4X
NLGN4Y
NODAL
NOTCH3
NPC1
NPC2
NPHP1
NPRL2
NPRL3
NRAS
NRXN1
NSD1
NSDHL
NTRK2
NUBPL
NUS1
OCLN
OCRL
OFD1
OPA1
OPHN1
OTC
OTX2
PAFAH1B1
PAH
PAK3
PANK2
PAX6
PC
PCBD1
PCDH19
PCNT
PDCD10
PDE6D
PDGFB
PDGFRB
PDHA1
PDHX
PDP1
PDSS1
PDSS2
PET100
PEX1
PEX10
PEX11B
PEX12
PEX13
PEX14
PEX16
PEX19
PEX2
PEX26
PEX3
PEX5
PEX6
PEX7
PGAP2
PGAP3
PGK1
PGM1
PHF6
PHGDH
PIGA
PIGL
PIGM
PIGN
PIGO
PIGQ
PIGV
PIK3AP1
PIK3CA
PIK3R2
PLA2G6
PLCB1
PLP1
PMM2
PNKP
PNPO
POLG
POLG2
POLR3A
POLR3B
POMC
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PPFIA1
PPFIA2
PPFIA3
PPFIA4
PPFIBP1
PPFIBP2
PPP2R2C
PPT1
PQBP1
PRF1
PRICKLE1
PRICKLE2
PRODH
PRRT2
PSAP
PSAT1
PTCH1
PTEN
PTH
PTPN11
PTS
PURA
QARS
QDPR
RAB18
RAB27A
RAB39B
RAB3GAP1
RAB3GAP2
RAD21
RAF1
RAI1
RANGAP1
RARS2
RBBP8
RBFOX1
RBFOX3
RELN
RFT1
RGMA
RHOBTB2
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
ROGDI
RORB
RPGRIP1L
RPIA
RRM2B
RTTN
RUBCN
RXYLT1
RYR3
SAMHD1
SATB2
SCARB2
SCN10A
SCN1A
SCN1B
SCN2A
SCN2B
SCN3A
SCN3B
SCN4A
SCN4B
SCN5A
SCN8A
SCN9A
SCO2
SDHA
SDHAF1
SEPSECS
SERPINI1
SETBP1
SGSH
SHANK3
SHH
SHOC2
SHROOM4
SIK1
SIX3
SLC12A5
SLC12A6
SLC13A5
SLC16A1
SLC16A2
SLC17A5
SLC19A3
SLC1A3
SLC20A2
SLC25A1
SLC25A12
SLC25A15
SLC25A19
SLC25A20
SLC25A22
SLC2A1
SLC2A2
SLC35A1
SLC35A2
SLC35C1
SLC3A2
SLC46A1
SLC4A10
SLC6A1
SLC6A5
SLC6A8
SLC9A6
SLC9A9
SMARCA1
SMARCA2
SMARCA4
SMARCB1
SMARCE1
SMC1A
SMC3
SMPD1
SMS
SNAP25
SNAP29
SNIP1
SOS1
SOX10
SOX2
SPRED1
SPTAN1
SRD5A3
SRGAP2
SRPX2
ST3GAL3
ST3GAL5
STAMBP
STIL
STRADA
STX1B
STXBP1
SUCLA2
SUCLG1
SUMF1
SUOX
SURF1
SYN1
SYNGAP1
SYNJ1
SYP
SZT2
TACO1
TBC1D20
TBC1D24
TBCE
TBX1
TCF4
TCTN1
TCTN2
TCTN3
TGIF1
TK2
TMEM138
TMEM165
TMEM216
TMEM231
TMEM237
TMEM67
TMEM70
TNK2
TPP1
TREM2
TREX1
TRPM6
TSC1
TSC2
TSEN2
TSEN34
TSEN54
TTC21B
TTR
TUBA1A
TUBA8
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUSC3
TWNK
TYROBP
UBE2A
UBE3A
UBR5
UPB1
VANGL1
VARS2
VDAC1
VLDLR
VPS13A
VPS13B
VPS53
VRK1
WDR45
WDR62
WFS1
WWOX
XK
ZBTB18
ZC4H2
ZDHHC9
ZEB2
ZIC2
ZNF335
ZNF423