GENE PANELS

MENDELIOME - NEUROMUSCULAR DISORDERS (NM)

DETAILS

 
Version :
Status :
Size :
Website :
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166 genes
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

 
141-MED (UZ Brussel)
141-MED (UZ Brussel)

INSTRUMENTS

 
Illumina NovaSeq 6000
Illumina NovaSeq 6000

Our highest capacity short read sequencer. This device can generate reads up to 250 bp in length (on the SP flowcell) and generate up to 10B reads per flowcell (S4).

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

2

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

2

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

2

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

11

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

CONTACT

 
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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

 

We aim to keep te list with sample types updated. However, if you believe we offer this gene panel on other sample types, of if you have a very specific sample type you'd like to evaluate : please contact the corresponding persons for either diagnostic or research purposes.

arrow&v
Tissue
Recipient
Quantity
Transport
Purpose / Extract
Blood
DBS / Guthrie card / Punch in microtube*
Min. 1 punch
Room temperature
DNA
Blood
EDTA tube
10 ml (min. 3 ml)
Room temperature
DNA
Cells of various tissue origins
Microtube* with cell pellet or on lysis buffer
> 5 million cells
Dry ice
DNA
DNA from various tissues
Microtube*
See test details/specifications
Room temperature
DNA
DNA from various tissues
Microtube* or 96 well plate
See test details/specifications
Room temperature
DNA
Tissue of various origins
Cryovial containing stabilizer (eg. AllProtect) or tissue homogenized on lysis buffer
Application/tissue specific (contact us)
Dry ice
DNA

* 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.  

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
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)
 

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
CRPPA
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
FDX2
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