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NGS Aorta and mitralis valve defects

Panel name NGS Aorta and mitralis valve defects
Panel method Targeted NGS
Panel version ** v4.0
Panel quality *** A/C
Core-NL 2 core-NL genes included
CNV analysis Yes
Location Location VUmc
Genes (10) Quality % coverage >30 % coverage >20 Core-NL Note
DCHS1 C 100 100
FLNA A 100 100 core-NL
GATA4 C 100 100
GATA5 C 100 100
GATA6 C 100 100
NKX2-5 C 100 100
NOTCH1 A 100 100 core-NL
ROBO4 C 100 100
SMAD6 C 100 100
TAB2 C 100 100
Indication(s)
Aortic valve disease
Loeys-Dietz syndrome

** For information on previous versions of this panel, please contact the Genome Diagnostics Laboratory

*** NGS panel genes can be analyzed with different quality. More info about test quality type A, C or A/C


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