
GENE PANELS
EXOME - NEUROMUSCULAR DISORDERS (NM)
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)
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

141-MED (UZ Brussel)
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
ACADVL
ACTA1
AGRN
ALDOA
ALG14
ALG2
ALS2
ANG
ANO5
ASAH1
ATP7A
ATXN2
B3GALNT2
B4GAT1
BAG3
BICD2
BIN1
BSCL2
C9orf72
CAV3
CFL2
CHAT
CHKB
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
COL6A1
COL6A2
COL6A3
COLQ
CPT2
ISPD
CRYAB
DAG1
DAO
DCTN1
DES
DGUOK
DMD
DNAJB2
DNAJB6
DNM2
DOK7
DOLK
DPAGT1
DPM1
DPM2
DPM3
DYNC1H1
DYSF
ECEL1
EMD
ENO3
ETFA
ETFB
ETFDH
EXOSC3
FBLN5
FBXO38
FDX1L
FHL1
FKRP
FKTN
FLNC
FUS
GAA
GARS
GFPT1
GLE1
GMPPB
GNE
GRN
HADHA
HADHB
HARS
HEXB
HNRNPA1
HNRNPA2B1
HSPB1
HSPB3
HSPB8
IGHMBP2
ISCU
KBTBD13
KLHL40
KLHL9
LAMA2
LAMB2
LARGE1
LAS1L
LDB3
LMNA
LPIN1
LRP4
MATR3
MEGF10
MTM1
MUSK
MYBPC3
MYH14
MYH3
MYH7
MYH8
MYOT
NEB
NEFH
OPTN
PABPN1
PFKM
PFN1
PGAM2
PGK1
PGM1
PHKA1
PHKB
PLEC
PLEKHG5
POLG
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PREPL
PYGM
QDPR
RAPSN
REEP1
RXYLT1
RYR1
SCN4A
SELENON
SETX
SIGMAR1
SIL1
SLC18A3
SLC52A2
SLC52A3
SLC5A7
SMN1
SNAP25
SOD1
SQSTM1
SYT2
TAF15
TARDBP
TFG
TIA1
TNNI2
TNNT1
TNNT3
TNPO3
TPM2
TPM3
TRPV4
TSEN54
TTN
UBA1
UBQLN2
UNC13A
VAPB
VCP
VEGFA
VRK1