| 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) |
|---|
| 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