GENE PANELS
EXOME - SKELETAL DYSPLASIA (SKD)
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.
* 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.
Blood > DNA
DBS / Guthrie card / Punch in microtube*
Min. 1 punch
Room temperature
Blood > DNA
EDTA tube
10 ml (min. 3 ml)
Room temperature
Cells of various tissue origins > DNA
Microtube* with cell pellet or on lysis buffer
> 5 million cells
Dry ice
DNA from various tissues > DNA
Microtube* or 96 well plate
See test details/specifications
Room temperature
Tissue of various origins > DNA
Cryovial containing stabilizer (eg. AllProtect) or tissue homogenized on lysis buffer
Application/tissue specific (contact us)
Dry ice
Extra requirements
Absorbance ratio A260/A230 - Minimum
DNA from various tissues
Minimum: 1,5
Lower values are indicative for indicative for EDTA, carbohydrate, chaotropic salts (and also protein) contamination
Absorbance ratio A260/A280 - Minimum
DNA from various tissues
Minimum: 1,5
Lower values are indicative for indicative for protein, phenol or other aromatic compound contamination
Elution buffer : nuclease free water, Tris-HCl or TE
DNA from various tissues
:
Please use nuclease free elution buffers, however this assay is compatible with either water, Tris-HCl as TE.
Minimum DNA concentration
DNA from various tissues
Minimum: 7,7 ng/µl
A minimum concentration of 7,7 ng/µl is required, however succesfull experiments are possible below this limit.
Minimum DNA quantity
DNA from various tissues
Minimum: 200 ng
We prefer delivery of at least 1 µg of DNA
Deliverables
Below, you can find the type of data files that can be retrieved for this test.
If you require more information or need a more custom output, please consult our Bioinformatics page.
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)
Costs
For Diagnostic testing
When requested through your General Practitioner / Clinical Geneticist / Pathologist / Hematologist, costs will be covered through your health insurance. The costs involved will be those for your consultation and/or 'remgeld'.
For Research testing
Below, you can find indicative prices (excl. VAT) for all potential options you'd require to accomplish your project. If you are interested, please contact us to receive a tailored quotation.
Update pending
Our prices are being updated. More info soon.
Documents & certificates
Validated
Plan experiment
For Diagnostics
This test is mainly performed as a diagnostic assay. In this case, please contact your General Practitioner or Clinical Geneticist (Centre for Medical Genetics of choice) to get the diagnosis started.
For Research
This test can also be applied in context of research. For this, please get approval from your local ethical committee and/or make proper arrangements with your Biobank.
Please follow the steps below to start up an experiment with us.
Get in touch (ONLY FOR NEW PROJECTS)
Explain your project, so we can assist you to find the best solution.
Expect questions like :
What type of sample would you like to analyze?
Which elution buffer did you use?
What are the expected concentrations of your samples?
How many samples would you like to process?
How fast do you need the results (TAT) and/or do we need to expedite?
If you deviate from our sample types, are there test samples available?
Are our standard deliverables ok?
...
1
Request quotation
Once you know which experiment you want to set up, fill out the 'Quote request' form, with the essential details of your project :
Coordinates of the person to whom to address the quotation
Which type of test you'd like to set up
Do you require a specific deliverable?
Do we need to expedite (comes at extra cost)?
...
2
Submit your samples
Once you agree with our terms (quote / TAT / terms & conditions) :
Fill out our sample submission form
Send it via email : contact us
Print out the form and include it with your samples
Send your samples to us
Label your tubes/plates correctly : see details here
Adhere to the corresponding transport conditions listed under Sample types
Indicate if we can discard your samples after completion of project
3
Your experiment starts
Now it is up to us... We will start your experiment as soon as possible.
When expedited, the turn-around-time (TAT) is 1 month
For standard requests the turn-around-time (TAT) is 2 months
The standard TAT is generally overestimated, but this extended timeframe allows us to : combine similar requests of multiple scientists and to repeat the experiment in case of issues.
Please refrain from contacting us in case the pre-agreed TAT didn't expire yet.
4
Genelist
ABCC9
ABL1
ACAN
ACP4
ACP5
ACTB
ACTG1
ACVR1
ADAMTS10
ADAMTS17
ADAMTSL2
AFF3
AFF4
AGA
AGPS
AHDC1
AIFM1
AKT1
AKT2
ALG12
ALG9
ALPL
ALX1
ALX3
ALX4
AMER1
ANAPC1
ANKH
ANKRD11
ANO5
ANTXR2
APC
APC2
ARCN1
ARHGAP25
ARHGAP31
ARID1A
ARID1B
ARSB
ARSE
ARSK
ASAH1
ASCC1
ASXL1
ASXL2
ATP6V0A2
ATR
B3GALT6
B3GAT3
B4GALT7
BANF1
BCL11B
BGN
BHLHA9
BMP1
BMP2
BMPER
BMPR1B
BNIP1
BRIP1
C1R
C1S
C21orf2
C2CD3
CA2
CANT1
CASR
CBFB
CC2D2A
CCDC134
CCDC8
CCNQ
CD96
CDC45
CDC6
CDC73
CDH3
CDK10
CDKN1C
CDT1
CENPE
CEP120
CEP152
CEP290
CHD7
CHST11
CHST14
CHST3
CHSY1
CKAP2L
CLCN5
CLCN7
COG1
COG4
COL10A1
COL11A1
COL11A2
COL1A1
COL1A2
COL27A1
COL2A1
COL9A1
COL9A2
COL9A3
COLEC10
COLEC11
COMP
COPB2
CPLANE1
CREB3L1
CREBBP
CRIPT
CRTAP
CSF1R
CSGALNACT1
CSPP1
CTSA
CTSK
CUL7
CYP26B1
CYP27B1
CYP2R1
CYP3A4
DDR2
DDRGK1
DDX58
DDX59
DHCR24
DHODH
DLL3
DLL4
DLX3
DLX5
DLX6
DMP1
DNA2
DNAJC21
DNMT3A
DOCK6
DONSON
DSE
DVL1
DVL3
DYM
DYNC2H1
DYNC2LI1
EBP
EDN1
EDNRA
EED
EFL1
EFNA4
EFNB1
EFTUD2
EIF2AK3
EIF4A3
ELMO2
EN1
ENPP1
EOGT
EP300
EPS15L1
ERCC4
ERF
ESCO2
EVC
EVC2
EXOC6B
EXT1
EXT2
EXTL3
EZH2
FAM111A
FAM20C
FAM46A
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FAR1
FBLN1
FBN1
FBN2
FBXW4
FERMT3
FGD1
FGF10
FGF16
FGF23
FGF3
FGF4
FGF8
FGF9
FGFR1
FGFR2
FGFR3
FIG4
FKBP10
FLNA
FLNB
FMN1
FN1
FREM1
FUCA1
FZD2
GALNS
GALNT3
GBA
GCM2
GDF3
GDF5
GDF6
GINS2
GJA1
GLB1
GLI1
GLI2
GLI3
GMNN
GNAI3
GNAS
GNPAT
GNPNAT1
GNPTAB
GNPTG
GNS
GORAB
GPC3
GPC4
GPC6
GPR68
GPX4
GREM1
GRK2
GSC
GUSB
HAAO
HDAC4
HDAC8
HES7
HGSNAT
HHAT
HNRNPC
HNRNPK
HOXA11
HOXA13
HOXD13
HPGD
HRAS
HS2ST1
HSPA9
HSPG2
HUWE1
HYAL1
IARS2
ICK
ID4
IDH1
IDH2
IDS
IDUA
IFIH1
IFITM5
IFT122
IFT140
IFT172
IFT43
IFT52
IFT80
IFT81
IGF1R
IHH
IKBKG
IL11RA
IL1RN
IL6ST
IMPAD1
INPPL1
INTU
JAG1
KAT6B
KCNJ2
KDELR2
KIAA0586
KIAA0753
KIAA0825
KIF22
KIF5B
KIF7
KL
KRAS
KYNU
LAMA5
LBR
LEMD3
LFNG
LIFR
LMBR1
LMNA
LMX1B
LONP1
LPIN2
LRIT3
LRP4
LRP5
LRRK1
LTBP1
LTBP2
LTBP3
MAB21L2
MAFB
MAN2B1
MAN2C1
MANBA
MAP2K1
MAP3K20
MAP3K7
MAPKAPK5
MASP1
MATN3
MBTPS1
MBTPS2
MCM3
MCM5
MCM7
MECOM
MEGF8
MEOX1
MESD
MESP2
MET
MGP
MID1
MITF
MKS1
MMP13
MMP14
MMP2
MMP9
MNX1
MSX2
MTAP
MTX2
MYCN
MYH3
MYO18B
MYT1
NADSYN1
NAGLU
NANS
NBAS
NEK1
NEPRO
NEU1
NF1
NFIX
NIPBL
NKX3-2
NLRP3
NMNAT1
NOG
NOTCH1
NOTCH2
NPPC
NPR2
NPR3
NRAS
NSD1
NSDHL
NSMCE2
NTRK2
NXN
OBSL1
OFD1
ORC1
ORC4
ORC6
OSTM1
P3H1
P4HB
PALB2
PAM16
PANK2
PAPSS2
PCNT
PCYT1A
PDE3A
PDE4D
PDGFRB
PEX5
PEX7
PGM3
PHEX
PIGV
PIK3CA
PISD
PITX1
PLCB3
PLCB4
PLEKHM1
PLOD2
PLS3
POLE
POLR1A
POLR1B
POLR1C
POLR1D
POLR3A
POLR3B
POLR3GL
POP1
POR
PORCN
PPIB
PRKACA
PRKACB
PRKAR1A
PRKG2
PRMT7
PROK2
PRRX1
PTDSS1
PTH1R
PTHLH
PTPN11
PYCR1
RAB23
RAB33B
RAD21
RAD51C
RASGRP2
RBBP8
RBM8A
RBPJ
RECQL4
RFLNA
RINT1
RIPPLY2
RMRP
RNU4ATAC
ROR2
RPGRIP1L
RPL13
RSPO2
RSPRY1
RUNX2
SALL1
SALL4
SBDS
SCUBE3
SEC23A
SEC24D
SERPINF1
SERPINH1
SETD2
SF3B4
SFRP4
SGK3
SGMS2
SGSH
SH3BP2
SH3PXD2B
SHH
SHOX
SIK3
SIX1
SIX2
SKI
SLC10A7
SLC17A5
SLC25A24
SLC26A2
SLC29A3
SLC34A3
SLC35B2
SLC35D1
SLC39A13
SLC4A2
SLCO2A1
SLCO5A1
SLX4
SMAD2
SMAD3
SMAD4
SMAD6
SMARCA2
SMARCA4
SMARCAL1
SMARCB1
SMARCE1
SMC1A
SMC3
SMCHD1
SMO
SMS
SNRPB
SNX10
SOST
SOX6
SOX9
SP7
SPARC
SPECC1L
SQSTM1
SRP54
STAT3
SULF1
SUMF1
SUZ12
TAB2
TBC1D24
TBCE
TBX15
TBX3
TBX4
TBX5
TBX6
TBXAS1
TCF12
TCIRG1
TCOF1
TCTEX1D2
TCTN3
TFAP2B
TGDS
TGFB1
TGFB2
TGFB3
TGFBR1
TGFBR2
THPO
TMCO1
TMEM165
TMEM216
TMEM251
TMEM38B
TMEM53
TMEM67
TNFRSF11A
TNFRSF11B
TNFSF11
TONSL
TOP2B
TP63
TRAF3IP1
TRAF7
TRAIP
TRAPPC2
TREM2
TRIP11
TRIP4
TRPS1
TRPV4
TRPV6
TTC21B
TWIST1
TXNL4A
TYROBP
UBA2
UBE2T
UFSP2
VAC14
VCP
VDR
VPS33A
WDR19
WDR34
WDR35
WDR60
WISP3
WNT1
WNT10B
WNT3
WNT5A
WNT6
WNT7A
XRCC4
XYLT1
XYLT2
ZEB2
ZIC1
ZIC3
ZMPSTE24
ZNF462
ZSWIM6