
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

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
AARS1
ACADVL
ACTA1
ADSS1
AGRN
AIFM1
ALDOA
ALG14
ALG2
ALS2
ANG
ANO5
ANXA11
ARHGEF10
ASAH1
ASCC1
ATL1
ATL3
ATP1A1
ATP1A2
ATP2A1
ATP7A
ATXN2
B3GALNT2
B4GAT1
BAG3
BICD2
BIN1
BSCL2
BVES
C9orf72
CACNA1H
CACNA1S
CAPN3
CASQ1
CAV3
CCDC78
CCT5
CFL2
CHAT
CHKB
CHMP2B
CHRNA1
CHRNB1
CHRND
CHRNE
CHRNG
CLCN1
CLN3
CLTCL1
CNTN1
CNTNAP1
COL12A1
COL13A1
COL6A1
COL6A2
COL6A3
COLQ
COX6A1
CPT2
CRPPA
CRYAB
CTDP1
DAG1
DAO
DCAF8
DCTN1
DES
DGAT2
DGUOK
DHTKD1
DMD
DNAJB2
DNAJB6
DNM2
DNMT1
DOK7
DOLK
DPAGT1
DPM1
DPM2
DPM3
DST
DYNC1H1
DYSF
ECEL1
EGR2
ELP1
EMD
ENO3
ERBB4
ETFA
ETFB
ETFDH
EXOSC3
EXOSC8
FBLN5
FBXO38
FDX2
FGD4
FHL1
FIG4
FKRP
FKTN
FLNC
FLVCR1
FUS
GAA
GAN
GARS1
GDAP1
GFPT1
GJB1
GJB3
GLE1
GMPPB
GNB4
GNE
GOLGA2
GOSR2
GRN
HACD1
HADHA
HADHB
HARS1
HEXB
HINT1
HK1
HMBS
HNRNPA1
HNRNPA2B1
HOXD10
HSPB1
HSPB3
HSPB8
HSPG2
IFRD1
IGHMBP2
INF2
INPP5K
ISCU
ITGA7
JAG1
KARS1
KBTBD13
KCNA1
KCNE3
KIF1A
KIF1B
KIF26B
KIF5A
KLHL40
KLHL41
KLHL9
KY
LAMA2
LAMA5
LAMB2
LARGE1
LAS1L
LDB3
LITAF
LMNA
LMOD3
LPIN1
LRP4
LRSAM1
MAP3K20
MAPT
MARS1
MATR3
MB
MED25
MEGF10
MFN2
MME
MORC2
MPV17
MPZ
MSTN
MTM1
MTMR2
MTRFR
MUSK
MYBPC3
MYH14
MYH2
MYH3
MYH7
MYH8
MYMK
MYO18B
MYO9A
MYOT
MYPN
NAGLU
NDRG1
NEB
NEFH
NEFL
NEK1
NGF
NTRK1
OPTN
ORAI1
PABPN1
PAX7
PDK3
PEX1
PEX7
PFKM
PFN1
PGAM2
PGK1
PGM1
PHKA1
PHKB
PHYH
PLEC
PLEKHG5
PMP22
PNKP
POGLUT1
POLG
POMGNT1
POMGNT2
POMK
POMT1
POMT2
PRDM12
PREPL
PRPH
PRPS1
PRUNE1
PRX
PTEN
PYGM
PYROXD1
QDPR
RAB7A
RAPSN
RBM7
REEP1
RETREG1
RPH3A
RXYLT1
RYR1
RYR3
SACS
SBF1
SBF2
SCN11A
SCN4A
SCN9A
SCO2
SELENON
SETX
SGPL1
SH3TC2
SIGMAR1
SIL1
SLC18A3
SLC25A1
SLC52A2
SLC52A3
SLC5A7
SMN1
SNAP25
SOD1
SOX10
SPEG
SPG11
SPTAN1
SPTBN4
SPTLC1
SPTLC2
SQSTM1
STAC3
STAT5B
STIM1
SURF1
SYNE1
SYNE2
SYT2
TAF15
TARDBP
TBK1
TBX5
TCAP
TDP1
TFG
TIA1
TMEM237
TNNI2
TNNT1
TNNT3
TNPO3
TOR1AIP1
TPM2
TPM3
TRAPPC11
TRIM2
TRIM32
TRIM54
TRIM63
TRIP4
TRPV4
TSEN54
TTN
TTR
TUBA4A
TUBB3
TYMP
UBA1
UBQLN2
UNC13A
VAMP1
VAPB
VCP
VEGFA
VRK1
WARS1
WNK1
YARS1
ZFHX2













