GENE PANELS

MENDELIOME - MALFORMATIONS OF CORTICAL DEVELOPMENT (MCD)

DETAILS

 
Version :
Status :
Size :
Website :
11
Inactive.png
235 genes
Extra info :

MCDGP

Method :

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

CERTIFICATES

 
141-MED (UZ Brussel)
141-MED (UZ Brussel)

INSTRUMENTS

 
Illumina NovaSeq 6000
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

 
Flyer2 GW testing white borders_edited.j
Analyses génomiques - Expert FR

2

Flyer2 GW testing white borders_edited.j
Genome-wide genetic testing - Non-expert EN

2

Flyer2 GW testing white borders_edited.j
Analyses génomiques - Non-experts FR

2

Flyer2 GW testing white borders_edited.j
Genoomonderzoek in de genetica - Niet-expert NL

2

Flyer2 GW testing white borders_edited.j
Genelist Mendeliome - Malformations Of Cortical Development (MCD)

11

Flyer2 GW testing white borders_edited.j
Genoomonderzoek in de genetica - Expert NL

2

Flyer2 GW testing white borders_edited.j
Genome-wide genetic testing - Expert EN

2

CONTACT

 
pas14klein.jpg

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 te list with sample types updated. However, if you believe we offer this gene panel on other sample types, of if you have a very specific sample type you'd like to evaluate : please contact the corresponding persons for either diagnostic or research purposes.

arrow&v
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
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
ADGRG1
AGBL2
AHI1
AKT1
AKT3
AP1S2
AP4E1
AP4M1
AP4S1
ARFGEF2
ARHGAP31
ARID1B
ARL13B
ARX
ASNS
ASPM
ASXL1
ATP6V0A2
ATR
B3GALNT2
B3GNT2
B4GAT1
BICD2
C2CD3
CACNA1E
CASK
CCND2
CDK5
CDK5RAP2
CDK6
CDON
CENPE
CENPJ
CEP135
CEP152
CEP55
CHD7
CHD8
CIT
CKAP2L
CNOT1
CNTNAP2
COL18A1
COL3A1
COL4A1
COL4A2
CRADD
CRPPA
CSPP1
CUL4B
DAB1
DAG1
DCHS1
DCLK2
DCX
DDX3X
DEPDC5
DHCR7
DISP1
DKC1
DOCK6
DYNC1H1
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
GMPPB
GNAQ
GPC3
GPSM2
GRIN1
GRIN2B
HEPACAM
HERC1
HNRNPU
HSD17B4
HYLS1
IER3IP1
INTS8
JAM3
KAT6A
KAT6B
KATNB1
KDM5C
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
PI4KA
PIGA
PIK3CA
PIK3R2
PITX2
PLK4
PNKP
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PRRX1
PSAT1
PTCH1
PTEN
PYCR2
QARS
RAB18
RAB3GAP1
RAB3GAP2
RELN
RNASEH2A
RNASEH2B
RNASEH2C
RNASET2
RNU4ATAC
RTTN
RXYLT1
SAMHD1
SCN3A
SETD5
SF3B4
SHH
SIN3A
SIX3
SLC25A19
SLC35A2
SLC9A6
SMPD4
SNAP29
SOX9
SPATA5
SRD5A3
SRPX2
STAMBP
STIL
STRADA
TBC1D20
TBC1D24
TBC1D7
TCF4
TCTN1
TGIF1
TMEM216
TMEM67
TMX2
TREX1
TSC1
TSC2
TSEN54
TUBA1A
TUBA8
TUBB
TUBB2A
TUBB2B
TUBB3
TUBB4A
TUBG1
TUBGCP4
TUBGCP6
UBE3A
VLDLR
VPS13B
WDR62
WDR73
YWHAE
ZEB2
ZIC2
ZNF335
ZSWIM6