| Panel naam | NGS Idiopathische pulmonale arteriėle hypertensie (IPAH) |
|---|---|
| Panel methode | WES-based NGS |
| Panel versie ** | v2 |
| Panel kwaliteit *** | A/C |
| Core-NL | 1 core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie VUmc |
| Genen (27) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ABCC8 | C | 100.00 | 100.00 | NM_000352.6 | |
| ACVRL1 | C | 99.97 | 100.00 | NM_000020.3 | |
| AQP1 | C | 100.00 | 100.00 | NM_198098.4 | |
| ATP13A3 | C | 100.00 | 100.00 | NM_001367549.1 | |
| BMP10 | C | 100.00 | 100.00 | NM_014482.3 | |
| BMPR1A | C | 99.93 | 100.00 | NM_004329.3 | |
| BMPR1B | C | 100.00 | 100.00 | NM_001203.3 | |
| BMPR2 | A | 100.00 | 100.00 | core-NL | incl. MLPA, NM_001204.7 |
| CAV1 | C | 100.00 | 100.00 | NM_001753.5 | |
| EIF2AK4 | C | 99.99 | 100.00 | NM_001013703.4 | |
| ENG | C | 99.99 | 100.00 | NM_001114753.3 | |
| FBLN2 | C | 99.99 | 100.00 | NM_001004019.2 | |
| FOXF1 | C | 100.00 | 100.00 | NM_001451.3 | |
| GDF2 | C | 100.00 | 100.00 | NM_016204.4 | |
| GGCX | C | 100.00 | 100.00 | NM_000821.7 | |
| KCNK3 | C | 100.00 | 100.00 | NM_002246.3 | |
| KDR | C | 100.00 | 100.00 | NM_002253.4 | |
| KLF2 | C | 97.24 | 99.36 | NM_016270.4 | |
| KLK1 | C | 100.00 | 100.00 | NM_002257.4 | |
| NOTCH3 | C | 99.97 | 100.00 | NM_000435.3 | |
| PDGFD | C | 100.00 | 100.00 | NM_025208.5 | |
| SMAD1 | C | 100.00 | 100.00 | NM_005900.3 | |
| SMAD4 | C | 100.00 | 100.00 | NM_005359.6 | |
| SMAD9 | C | 100.00 | 100.00 | NM_001127217.3 | |
| SOX17 | C | 100.00 | 100.00 | NM_022454.4 | |
| TBX4 | C | 100.00 | 100.00 | NM_001321120.2 | |
| TET2 | C | 100.00 | 100.00 | NM_001127208.3 |
| Indicatie(s) |
|---|
| Pulmonale arteriële hypertensie |
** Voor informatie over eerdere versies van dit panel neem contact op met het laboratorium Genoomdiagnostiek
*** NGS panel genen kunnen met verschillende kwaliteit worden geanalyseerd. Meer informatie over testkwaliteit type A, C or A/C