GENE PANELS
MENDELIOME - CARDIOMYOPATHIES (CM)
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
Analyses génomiques - Non-experts FR
2
Genoomonderzoek in de genetica - Niet-expert NL
2
Genelist Mendeliome - Cardiomyopathies (CM)
11
Genoomonderzoek in de genetica - Expert NL
2
Genome-wide genetic testing - Expert EN
2
Verzendinstructies DNA stalen - NL
1
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
ACAD9
ACADVL
ACE
ACTA1
ACTC1
ACTN2
ADD3
ADRB2
AGT
AGTR1
AKAP9
ALPK3
ANKRD1
APOA1
B2M
BAG3
BRAF
C2orf40
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
MURC
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
PTPLA
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