GENE PANELS
EXOME - MALFORMATIONS OF CORTICAL DEVELOPMENT (MCD)
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 - Malformations Of Cortical Development (MCD)
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
ACTB
ACTG1
ADAT3
ADGRG1
AGBL2
AHI1
AKT1
AKT3
AMER1
AP1S2
AP4E1
AP4M1
AP4S1
ARFGEF2
ARHGAP31
ARID1B
ARL13B
ARX
ASNS
ASPM
ASXL1
ATP1A2
ATP1A3
ATP6V0A2
ATR
B3GALNT2
B3GNT2
B4GAT1
BICD2
C2CD3
CACNA1E
CASK
CCND2
CDK5
CDK5RAP2
CDK6
CDON
CENPE
CENPJ
CEP135
CEP152
CEP290
CEP55
CEP85L
CHD7
CHD8
CIT
CKAP2L
CNOT1
CNTNAP2
COL18A1
COL24A1
COL3A1
COL4A1
COL4A2
CRADD
CSF1R
CSPP1
CUL4B
DAB1
DAG1
DCHS1
DCLK2
DCX
DDX3X
DEPDC5
DHCR7
DISP1
DKC1
DOCK6
DYNC1H1
ECE2
EIF2AK3
EIF2S3
EMG1
EML1
EMX2
EOMES
EPG5
ERCC1
ERCC2
ERCC5
ERCC6
ERMARD
EZH2
FAT4
FGF8
FH
FIG4
FKRP
FKTN
FLNA
FOXC1
FOXG1
FOXH1
FUBP1
GAS1
GLI2
GLI3
GMPPB
GNAQ
GPC3
GPSM2
GRIN1
GRIN2B
HEPACAM
HERC1
HNRNPU
HSD17B4
HYLS1
IER3IP1
IHH
INTS8
ISPD
JAM3
KANSL1
KAT6A
KAT6B
KATNB1
KCNQ1
KDM5C
KIAA1109
KIF11
KIF1BP
KIF21B
KIF2A
KIF5C
KIF7
KNL1
L1CAM
LAMA1
LAMA2
LAMB1
LAMC3
LARGE1
MACF1
MAN2C1
MAP1B
MAPK8IP3
MCPH1
MECP2
MED12
MED17
MEF2C
MFSD2A
MID1
MPDZ
MTOR
MYCN
MYH10
NBN
NDE1
NEDD4L
NFIB
NHEJ1
NIPBL
NODAL
NPRL2
NPRL3
NR2F1
NSD1
NSDHL
OCLN
OFD1
PAFAH1B1
PAX6
PCNT
PEX1
PHF6
PI4KA
PIGA
PIK3CA
PIK3R2
PITX2
PLK4
PNKP
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PRKDC
PRRX1
PSAT1
PTCH1
PTCH2
PTEN
PYCR2
QARS
RAB18
RAB3GAP1
RAB3GAP2
RELN
RHEB
RMND1
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNU4ATAC
RTTN
RXYLT1
SAMHD1
SCN3A
SETD5
SF3B4
SHH
SIN3A
SIX3
SLC25A19
SLC35A2
SLC9A6
SMO
SMPD4
SNAP29
SOX9
SPATA5
SRD5A3
SRPX2
STAMBP
STIL
STRADA
SUFU
TBC1D20
TBC1D24
TBC1D7
TCF4
TCTN1
TGIF1
TMEM216
TMEM67
TMX2
TNS2
TREX1
TSC1
TSC2
TSEN54
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUBGCP4
TUBGCP6
UBE3A
VLDLR
VPS13B
WDR62
WDR73
WDR81
YWHAE
ZEB2
ZIC2
ZNF335
ZSWIM6