GENE PANELS
MENDELIOME - PRIMARY CARDIAC ARRHYTHMIAS (PCA)
DETAILS
CERTIFICATES
141-MED (UZ Brussel)
INSTRUMENTS
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
Analyses génomiques - Expert FR
2
Genome-wide genetic testing - Non-expert EN
2
Verzendinstructies DNA stalen - NL
1
Analyses génomiques - Non-experts FR
2
Genoomonderzoek in de genetica - Niet-expert NL
2
Genelist Mendeliome - Primary Cardiac Arrhythmias (PCA)
11
Genoomonderzoek in de genetica - Expert NL
2
Genome-wide genetic testing - Expert EN
2
Informatiebrochure Brugada-syndroom - NL
2
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.
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 / 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) |
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