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NGS Idiopathic pulmonary arterial hypertension

Panel name NGS Idiopathic pulmonary arterial hypertension
Panel method WES-based NGS
Panel version ** v2
Panel quality *** A/C
Core-NL 1 core-NL genes included
CNV analysis No
Location Location VUmc
Genes (27) Quality % coverage >30 % coverage >20 Core-NL Note
ABCC8 C
ACVRL1 C
AQP1 C
ATP13A3 C
BMP10 C
BMPR1A C
BMPR1B C
BMPR2 A core-NL
CAV1 C
EIF2AK4 C
ENG C
FBLN2 C
FOXF1 C
GDF2 C
GGCX C
KCNK3 C 0 0
KDR C
KLF2 C
KLK1 C
NOTCH3 C
PDGFD C
SMAD1 C
SMAD4 C
SMAD9 C
SOX17 C
TBX4 C
TET2 C
Indication(s)
Pulmonary arterial hypertension idiopathic - IPAH

** 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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