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GENE PANELS

EXOME - CARDIOMYOPATHIES (CM)

DETAILS

Panel Details
Version :
11
Status :
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Size :
208 genes
Start date :
June 2, 2025
Website :
Extra info :

CMGP

Method :

Capture based panel, using the NEBNext Ultra II FS DNA Library Prep Kit for Illumina and IDT xGen Exome Hybridization Panel

CERTIFICATES

Certificates
Validated
Validated

INSTRUMENTS

Instruments
MGI DNBSEQ-T7
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

Downloads
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Analyses génomiques - Expert FR

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Flyer2 GW testing white borders_edited.j
Genome-wide genetic testing - Non-expert EN

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Flyer2 GW testing white borders_edited.j
Analyses génomiques - Non-experts FR

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Genoomonderzoek in de genetica - Niet-expert NL

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Genelist Exome - Cardiomyopathies (CM)

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Genoomonderzoek in de genetica - Expert NL

2

Flyer2 GW testing white borders_edited.j
Genome-wide genetic testing - Expert EN

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Verzendinstructies DNA stalen - NL

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CONTACT

Contacts
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Secretariaat Medische Genetica

+32 (0)2 477 64 79 (sec)

UZ Brussel

Centrum Medische Genetica

Laarbeeklaan 101

1090 Brussels

SAMPLE TYPES

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

Dried blood spot (DBS) - Diagnostic
Blood > DNA

DBS / Guthrie card / Punch in microtube*

Min. 1 punch

Room temperature

Blood (for DNA) - Diagnostic
Blood > DNA

EDTA tube

10 ml (min. 3 ml)

Room temperature

Cells (for DNA) - Diagnostic
Cells of various tissue origins > DNA

Microtube* with cell pellet or on lysis buffer

> 5 million cells

Dry ice

DNA tube & plate - Diagnostic
DNA from various tissues > DNA

Microtube* or 96 well plate

See test details/specifications

Room temperature

Tissue biopsy (for DNA) - Diagnostic
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

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

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. ...

Call Center Headset

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

Call Center Headset

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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

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Genelist

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

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BRIGHTcore / T +32 (0)2 477 64 79 / F +32 (0)2 477 68 59

Photography / See our Colofon

Content & illustrations / Ben Caljon

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