Ventrilia: Aortopathy

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

Aortopathy is any disease affecting the aorta, the largest artery of the circulatory system, which is directly connected to the heart and is the starting point of blood transportation to the entire body. Aortopathies are considered a significant burden on healthcare systems internationally as they are responsible for early mortality, there is an increased number of incidences, and often they go undiagnosed until a major health complication.

Hereditary aortopathies are even more underdiagnosed. Early identification of genetic mutations in genes known to be associated with hereditary aortopathies, through genetic testing, can provide valuable information to the healthcare provider for better surveillance and timing of prophylactic repair, more accurate prognosis, and offering a more personalised therapy based on the patient’s specific genetic mutation.

Ventrilia: Aortopathy
48 Gene(s)*
ABCC6
ACTA2
ACVR1
ADAMTS2
ALDH18A1
ATP6V0A2
ATP6V1A
ATP6V1E1
B3GALT6
B4GALT7
BGN
C1R
C1S
CBS
CHST14
COL1A1
COL1A2
COL3A1
COL4A1
COL5A1
COL5A2
DSE
EFEMP2
ELN
FBLN5
FBN1
FBN2
FKBP14
FOXE3
GORAB
LOX
LTBP4
MFAP5
MYH11
MYLK
PLOD1
PRDM5
PYCR1
SKI
SLC2A10
SLC39A13
SMAD3
SMAD4
TGFB2
TGFB3
TGFBR1
TGFBR2
ZNF469


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