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 | incl. MLPA | ||
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) |
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Pulmonary arterial hypertension |
** 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