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GENE PANELS

EXOME - MALFORMATIONS OF CORTICAL DEVELOPMENT (MCD)

Engineering Plans

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Version :

12

Status :
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Size :

258 genes

Start date :

Website :

Extra info :

MCDGP

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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

Image by Mezidi Zineb
Sample types
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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)
Deliverables

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.

Euro Bill
Costs
Documents
Books

Documents & certificates

BELAC logo - UZ Brussel - Certificate Only.png
141-MED (UZ Brussel)
Plan experiment

Plan experiment

  1. 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.


  1. 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 :

  1. What type of sample would you like to analyze?

  2. Which elution buffer did you use?

  3. What are the expected concentrations of your samples?

  4. How many samples would you like to process?

  5. How fast do you need the results (TAT) and/or do we need to expedite?

  6. If you deviate from our sample types, are there test samples available?

  7. Are our standard deliverables ok?

  8. ...

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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 :

  1. Coordinates of the person to whom to address the quotation

  2. Which type of test you'd like to set up

  3. Do you require a specific deliverable?

  4. Do we need to expedite (comes at extra cost)?

  5. ...

Call Center Headset

2

Submit your samples

Once you agree with our terms (quote / TAT / terms & conditions)  :

  1. Fill out our sample submission form

  2. Send it via email : contact us

  3. Print out the form and include it with your samples

  4. Send your samples to us

  5. Label your tubes/plates correctly : see details here

  6. Adhere to the corresponding transport conditions listed under Sample types

  7. Indicate if we can discard your samples after completion of project

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3

Your experiment starts

Now it is up to us... We will start your experiment as soon as possible.

  1. When expedited, the turn-around-time (TAT) is 1 month

  2. 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.

Call Center Headset

4

Genelist
White Rocks

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

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