GENE PANELS

MENDELIOME - PRIMARY CARDIAC ARRHYTHMIAS (PCA)

DETAILS

 
Version :
Status :
Size :
Website :
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115 genes
Extra info :

PCAGP

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

 
Flyer2 GW testing white borders_edited.j
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

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 - Primary Cardiac Arrhythmias (PCA)

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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
Informatiebrochure Brugada-syndroom - NL

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

ABCC9
ACN9
ACTN2
ADRB1
ADRB2
AGTR1
AGXT2
AKAP9
ALG10B
ANK2
BAG3
CACNA1C
CACNA2D1
CACNA2D4
CACNB2
CALM1
CALM2
CALM3
CASQ2
CAV3
CIT
CKMT2
CRP
CSRP3
CTNNA3
DEPDC5
DPP6
DSC2
DSG2
DSP
EMD
FGF12
GATA4
GATA5
GATA6
GJA5
GPD1L
HCN4
HSPA1L
JPH2
JUP
KCNA5
KCNAB2
KCNB2
KCND3
KCNE1
KCNE1L
KCNE2
KCNE3
KCNE4
KCNE5
KCNH2
KCNJ16
KCNJ2
KCNJ5
KCNJ8
KCNK17
KCNK3
KCNQ1
KCNT1
KIF21B
LMNA
MYBPC3
MYH6
MYH7
MYL4
NAA10
NKX2-5
NKX2-6
NOS1AP
NPPA
NUP155
NUP37
PI4KA
PIK3CG
PITX2
PKP2
PLN
PRRX1
RANGRF
RBM20
REM2
RIMS1
RNF207
RYR1
RYR2
SCN10A
SCN1B
SCN2B
SCN3B
SCN4A
SCN4B
SCN5A
SCNN1A
SDHAF3
SEMA3A
SHOX2
SIRT6
SLC2A5
SLC4A3
SLMAP
SNTA1
TBX5
TGFB2
TKT
TNNI3
TPM1
TRDN
TRPM4
TTN
UBR4
UBR5
WDR26
XIRP1
ZC3HC1