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GENE PANELS

EXOME - NEUROMUSCULAR DISORDERS (NM)

DETAILS

Panel Details
Version :
12
Status :
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Size :
166 genes
Start date :
June 2, 2025
Website :
Extra info :

NMGP

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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Flyer2 GW testing white borders_edited.j
Genoomonderzoek in de genetica - Niet-expert NL

2

Flyer2 GW testing white borders_edited.j
Genelist Exome - Neuromuscular Disorders (NM)

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Flyer2 GW testing white borders_edited.j
Genoomonderzoek in de genetica - Expert NL

2

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

2

Flyer2 GW testing white borders_edited.j
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

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

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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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