Ventrilia: Congenital Heart Defects

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

Congenital heart defects (CHDs) are present from birth and affect the heart’s structure and efficiency to function. They are a significant factor for morbidity and mortality as the heart does not have regeneration abilities.

Ventrilia: Congenital Heart Defects
80 Gene(s)*
ACTA2
ACTC1
ACVR2B
AFF4
BMPR2
CAD
CDK13
CELSR1
CELSR2
CELSR3
CFAP53
CHD4
CHD7
CITED2
CREBBP
CRELD1
DNAH11
DNAH5
DNAH6
DNAI1
DTNA
EHMT1
ELN
EVC
EVC2
FBN1
FLNA
FOXC1
FOXH1
GANAB
GATA4
GATA5
GATA6
GDF1
GPC3
HAND1
HAND2
HRAS
JAG1
KDM5B
KMT2D
MED13L
MMP21
MYH11
MYH6
MYH7
NIPBL
NKX2-5
NKX2-6
NME7
NODAL
NOTCH1
NOTCH2
NR2F2
PITX2
PKD1L1
PLD1
POGZ
PRDM6
PRKD1
RABGAP1L
RBFOX2
RBM10
SALL4
SEMA3D
SEMA3E
SMAD6
TAB2
TBX1
TBX20
TBX5
TFAP2B
TGFBR1
TGFBR2
TLL1
TMEM260
TPM1
ZEB2
ZFPM2
ZIC3


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