Ventrilia: Comprehensive

Synonyms: CVDs
Material
Material:
Buccal swab
Untersuchungsdauer
TAT:
2-4 weeks
Contact
Methode
Method:
NGS
Overview

Hereditary cardiovascular disorders (CVDs) consist of a wide range of disorders of the heart and its circulatory system. CVDs can be anything from cardiomyopathies and arrhythmias to rarer syndromes, such as Brugada and Noonan syndrome. CVDs have a combined prevalence of 3% worldwide and are responsible for approximately 31% of annual global deaths, making them the leading cause of mortality and major contributor to disability. They are also a major reason for premature death. Premature deaths are of interest since many are deemed to be preventable through reduced exposure to behavioral risk factors but more importantly, timely and effective treatment, even before symptoms start to appear. It is estimated that 33% of cardiovascular related deaths could be prevented if identified early.

Hereditary CVDs are difficult to diagnose and are usually identified after a severe and life changing cardiovascular episode. A big percentage of hereditary CVDs are diagnosed after a stroke or heart attack causing irreversible damage. Genetic testing has a vital role in preventing premature deaths as in can identify the genetic variant causing a disease and identify at risk family members.

Ventrilia: Comprehensive
292 Gene(s)*
AARS2
ABCA1
ABCC6
ABCC9
ABCG5
ABCG8
ACAD9
ACADVL
ACTA1
ACTA2
ACTC1
ACTN2
ACVR1
ACVR2B
ACVRL1
ADAMTS2
AFF4
AGK
AKAP9
AKT3
ALDH18A1
ALMS1
ALPK3
ANK2
ANKRD1
APOA5
APOB
APOE
ATP6V0A2
ATP6V1A
ATP6V1E1
B3GALT6
B4GALT7
BAG3
BGN
BMPR1B
BMPR2
BRAF
C1R
C1S
CACNA1C
CACNA2D1
CACNB2
CAD
CALM1
CALM2
CALM3
CASQ2
CAV1
CAV3
CBL
CBS
CCND2
CDK13
CELSR1
CELSR2
CELSR3
CFAP53
CHD4
CHD7
CHST14
CITED2
COA5
COA6
COL1A1
COL1A2
COL3A1
COL4A1
COL5A1
COL5A2
COX15
CPT2
CREBBP
CRELD1
CRYAB
CSRP3
CTNNA3
DES
DMD
DNAH11
DNAH5
DNAH6
DNAI1
DNAJC19
DOLK
DSC2
DSE
DSG2
DSP
DTNA
EFEMP2
EHMT1
EIF2AK4
ELAC2
ELN
EMD
ENG
EPHB4
EVC
EVC2
FBLN5
FBN1
FBN2
FHL1
FKBP14
FKTN
FLNA
FLNC
FOXC1
FOXE3
FOXH1
GAA
GANAB
GATA4
GATA5
GATA6
GATAD1
GBE1
GDF1
GJA5
GLA
GNAI2
GORAB
GPC3
GPD1L
GTPBP3
HADHA
HADHB
HAND1
HAND2
HCN4
HRAS
ILK
JAG1
JPH2
JUP
KARS
KCNA5
KCNAB2
KCND3
KCNE1
KCNE2
KCNE3
KCNH2
KCNJ2
KCNJ5
KCNJ8
KCNK3
KCNQ1
KDM5B
KMT2D
KRAS
LAMA4
LAMP2
LDB3
LDLR
LDLRAP1
LIPA
LMNA
LOX
LPL
LTBP4
LZTR1
MAP2K1
MAP2K2
MED13L
MFAP5
MIB1
MMP21
MRAS
MRPL3
MRPL44
MTO1
MYBPC3
MYH11
MYH6
MYH7
MYL2
MYL3
MYL4
MYLK
MYLK2
MYOZ2
MYPN
NDUFB11
NDUFV2
NEBL
NEXN
NF1
NF2
NIPBL
NKX2-5
NKX2-6
NME7
NODAL
NOTCH1
NOTCH2
NPPA
NR2F2
NRAS
PCSK9
PDLIM3
PIK3CA
PIK3R2
PITX2
PKD1L1
PKP2
PLD1
PLN
PLOD1
POGZ
PPA2
PPP1CB
PRDM16
PRDM5
PRDM6
PRKAG2
PRKD1
PTPN11
PYCR1
RABGAP1L
RAF1
RASA1
RASA2
RBFOX2
RBM10
RBM20
RIT1
RRAS
RYR2
SALL4
SASH1
SCN10A
SCN1B
SCN2B
SCN3B
SCN4B
SCN5A
SCO2
SEMA3D
SEMA3E
SGCD
SHOC2
SKI
SLC22A5
SLC25A20
SLC25A3
SLC25A4
SLC2A10
SLC39A13
SMAD3
SMAD4
SMAD6
SMAD9
SMARCB1
SNTA1
SOS1
SOS2
SPRED1
STAMBP
TAB2
TAZ
TBX1
TBX20
TBX4
TBX5
TCAP
TECRL
TFAP2B
TGFB2
TGFB3
TGFBR1
TGFBR2
TK2
TLL1
TMEM260
TMEM43
TMEM70
TNNC1
TNNI3
TNNT2
TPM1
TRDN
TRPM4
TSFM
TTN
TTR
VCL
ZEB2
ZFPM2
ZIC3
ZNF469


Created by

Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.

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