GENE PANELS
EXOME - SKELETAL DYSPLASIA (SKD)
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 - Skeletal Dysplasia (SKD)
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
ABCC9
ABL1
ACAN
ACP4
ACP5
ACVR1
ADAMTS10
ADAMTS17
ADAMTSL2
AFF4
AGA
AGPS
AHDC1
AKT1
ALPL
ALX1
ALX3
ALX4
AMER1
ANKH
ANKRD11
ANO5
ANTXR2
APC
ARCN1
ARHGAP31
ARID1A
ARID1B
ARSB
ARSE
ASCC1
ASXL2
ATP6V0A2
B3GALT6
B3GAT3
B4GALT7
BGN
BHLHA9
BMP1
BMP2
BMPER
BMPR1B
BRIP1
C1R
C1S
C2CD3
CA2
CANT1
CASR
CC2D2A
CCDC8
CCNQ
CD96
CDC45
CDC6
CDH3
CDKN1C
CDT1
CEP120
CEP290
CHD7
CHST14
CHST3
CHSY1
CKAP2L
CLCN5
CLCN7
COG1
COL10A1
COL11A1
COL11A2
COL1A1
COL1A2
COL2A1
COL9A1
COL9A2
COL9A3
COMP
CPLANE1
CREB3L1
CREBBP
CRTAP
CSPP1
CTSA
CTSK
CUL7
CYP26B1
DDR2
DDX58
DDX59
DHCR24
DHODH
DLL3
DLX3
DLX5
DLX6
DMP1
DOCK6
DVL1
DVL3
DYM
DYNC2H1
DYNC2LI1
EBP
EDNRA
EFNA4
EFNB1
EFTUD2
EIF2AK3
EIF4A3
ELMO2
ENPP1
EOGT
EP300
ERCC4
ERF
ESCO2
EVC
EVC2
EXT1
EXT2
EZH2
FAM111A
FAM20C
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FBLN1
FBN1
FBN2
FBXW4
FERMT3
FGF10
FGF16
FGF23
FGF3
FGF4
FGF8
FGF9
FGFR1
FGFR2
FGFR3
FIG4
FKBP10
FLNA
FLNB
FMN1
FN1
FREM1
FUCA1
FZD2
GALNS
GALNT3
GDF3
GDF5
GDF6
GJA1
GLB1
GLI3
GNAS
GNPAT
GNPTAB
GNPTG
GNS
GORAB
GPC3
GPC6
GPR68
GPX4
GREM1
GUSB
HDAC4
HDAC8
HES7
HOXA11
HOXA13
HOXD13
HPGD
HSPG2
HUWE1
IARS2
ICK
IDH1
IDH2
IDS
IFITM5
IFT122
IFT140
IFT172
IFT43
IFT80
IGF1R
IHH
IKBKG
IL11RA
IL1RN
IMPAD1
INPPL1
JAG1
KAT6B
KIF22
KIF7
KRAS
LBR
LEMD3
LFNG
LIFR
LMBR1
LMNA
LMX1B
LONP1
LPIN2
LRIT3
LRP4
LRP5
LTBP2
LTBP3
MAB21L2
MAFB
MAN2B1
MAN2C1
MAP3K7
MATN3
MEGF8
MEOX1
MESP2
MGP
MITF
MKS1
MMP13
MMP2
MMP9
MNX1
MSX2
MYCN
MYT1
NAGLU
NEK1
NEU1
NF1
NFIX
NIPBL
NKX3-2
NLRP3
NOG
NOTCH2
NPR2
NSD1
NSDHL
NTRK2
OBSL1
OFD1
ORC1
ORC4
ORC6
OSTM1
P3H1
P4HB
PALB2
PAM16
PANK2
PAPSS2
PCNT
PCYT1A
PDE3A
PDE4D
PEX7
PGM3
PHEX
PIGV
PIK3CA
PITX1
PLEKHM1
PLOD2
PLS3
POLR1A
POLR1C
POLR1D
POP1
POR
PPIB
PRKAR1A
PROK2
PTDSS1
PTH1R
PTHLH
PTPN11
PYCR1
RAB23
RAB33B
RAD21
RAD51C
RASGRP2
RBM8A
RBPJ
RECQL4
RMRP
RNU4ATAC
ROR2
RPGRIP1L
RSPO2
RSPRY1
RUNX2
SALL1
SALL4
SBDS
SEC24D
SERPINF1
SERPINH1
SETD2
SF3B4
SH3BP2
SH3PXD2B
SHOX
SKI
SLC17A5
SLC26A2
SLC29A3
SLC34A3
SLC35D1
SLC39A13
SLCO5A1
SLX4
SMAD3
SMAD4
SMARCA2
SMARCA4
SMARCAL1
SMARCB1
SMC1A
SMC3
SMO
SNRPB
SNX10
SOST
SOX6
SOX9
SP7
STAT3
SULF1
SUMF1
TBCE
TBX15
TBX3
TBX4
TBX5
TBX6
TBXAS1
TCF12
TCIRG1
TCOF1
TCTN3
TGDS
TGFB1
TGFB2
TGFBR1
TGFBR2
THPO
TMCO1
TMEM216
TMEM38B
TMEM67
TNFRSF11B
TP63
TRAPPC2
TREM2
TRIP11
TRIP4
TRPS1
TRPV4
TTC21B
TWIST1
TYROBP
UBE2T
WDR19
WDR34
WDR35
WISP3
WNT1
WNT10B
WNT3
WNT5A
WNT6
WNT7A
XYLT1
XYLT2
ZEB2
ZIC1
ZMPSTE24
ZSWIM6