
GENE PANELS
EXOME - CARDIOMYOPATHIES (CM)
DETAILS
CERTIFICATES

Validated
INSTRUMENTS
MGI DNBSEQ-T7
Our highest capacity short read sequencer. This device can generate up to 5,8B reads per flowcell. We standardly run SE50 bp and PE150 bp runs, but read length can be flexibily adjusted (to >200 bp).
DOWNLOADS
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.
* 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.
Research portfolio

Blood > cfDNA/ctDNA
Streck Cell-Free DNA BCT
9 ml
Room temperature

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

FFPE block of various tissues > DNA
Paraffin block (in cassette)
Representative block ; Tumor load preferentially >10% ; To be processed by our pathology department (microtome section needed)
Room temperature

FFPE section of various tissues > DNA
Microtube*
Min. 1x 10 µm section (up to 2 mm³ tissue) ; Tumor load preferentially >10%
Room temperature

Plasma > cfDNA/ctDNA
DNA LoBind 5 ml tube
> 2ml
Dry ice

Tissue of various origins > DNA
Cryovial containing stabilizer (eg. AllProtect) or tissue homogenized on lysis buffer
Application/tissue specific (contact us)
Dry ice
Diagnostic portfolio

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
Specific sample recommendations / requirements
Absorbance ratio A260/A230 - Minimum
Optimum : 1,5 [Acceptable range (-)]
DNA from various tissues
Lower values are indicative for indicative for EDTA, carbohydrate, chaotropic salts (and also protein) contamination
Absorbance ratio A260/A280 - Minimum
Optimum : 1,5 [Acceptable range (-)]
DNA from various tissues
Lower values are indicative for indicative for protein, phenol or other aromatic compound contamination
Elution buffer : nuclease free water, Tris-HCl or TE
Optimum : [Acceptable range (-)]
Please use nuclease free elution buffers, however this assay is compatible with either water, Tris-HCl as TE.
DNA from various tissues
Minimum DNA concentration
Optimum : 7,7 [Acceptable range (-)]
DNA from various tissues
A minimum concentration of 7,7 ng/µl is required, however succesfull experiments are possible below this limit.
Minimum DNA quantity
Optimum : 200 [Acceptable range (-)]
DNA from various tissues
We prefer delivery of at least 1 µg of DNA
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) |
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
ACAD9
ACADVL
ACE
ACTA1
ACTC1
ACTN2
ADD3
ADRB2
AGT
AGTR1
AKAP9
ALPK3
ANKRD1
APOA1
B2M
BAG3
BRAF
CACNA1C
CACNB2
CALM1
CALM2
CALM3
CALR3
CASQ2
CASZ1
CAV3
CAVIN4
CBL
CDH2
CHRM2
CMYA5
CNBP
COA5
COA6
COX10
COX15
CRYAB
CSRP3
CTF1
CTNNA3
DES
DLG1
DMD
DNAJC19
DNM1L
DOLK
DSC2
DSG2
DSP
DTNA
ECRG4
ELAC2
ELN
EMD
EYA4
FBXO32
FHL1
FHL2
FHOD3
FKRP
FKTN
FLNC
FLT1
FOXD4
FXN
GAA
GATA4
GATA5
GATA6
GATAD1
GLA
GTPBP3
HACD1
HADHB
HAND1
HCN4
HIF1A
HRAS
HSPB6
HSPB7
ILK
INS-IGF2
ISL1
JPH2
JUP
KARS
KAT2B
KCND2
KCNE1
KCNH2
KCNJ12
KCNQ1
KIF20A
KLF10
LAMA2
LAMA4
LAMP2
LDB3
LMNA
LRRC10
MAP2K1
MAP2K2
MIB1
MIB2
MRPL3
MRPL44
MTO1
MYBPC3
MYH15
MYH6
MYH7
MYH7B
MYL2
MYL3
MYLK2
MYO6
MYOM1
MYOM3
MYOZ1
MYOZ2
MYPN
NAA10
NCOA6
NDUFAF1
NDUFV2
NEB
NEBL
NEXN
NKX2-5
NPPA
NRAP
OBSCN
OBSL1
OPA1
PDLIM3
PKP2
PLEC
PLEKHM2
PLN
PPCS
PRDM16
PRKAG2
PRNP
PSEN1
PSEN2
PTEN
PTPN11
RAF1
RANGRF
RBM20
RIT1
RPSA
RRAGC
RTKN2
RYR2
S100A1
SCN4B
SCN5A
SDHA
SGCB
SGCD
SGCG
SGK1
SHOC2
SLC12A1
SLC22A5
SLC25A3
SLC25A4
SMC1A
SNTA1
SOD2
SOS1
SYNE1
SYNE2
SYNM
TAF1A
TAX1BP3
TAZ
TBX20
TBX5
TCAP
TCF21
TGFB3
TJP1
TK2
TMED4
TMEM43
TMEM87B
TMPO
TNNC1
TNNI3
TNNI3K
TNNT2
TNNT3
TPM1
TRIM54
TRIM55
TRIM63
TRPM4
TSFM
TTN
TTR
TXNRD2
VCL
VEGFA
YWHAE
ZBTB17



