| Panel naam | NGS Hyperinsulinisme |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Ja |
| Locatie | Locatie AMC |
| Genen (15) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ABCC8 | C | 100.00 | 100.00 | NM_000352.6 | |
| CACNA1D | C | 99.99 | 100.00 | NM_001128840.3 | |
| FOXA2 | C | 100.00 | 100.00 | NM_021784.5 | |
| GCK | C | 100.00 | 100.00 | NM_000162.5 | |
| GLUD1 | C | 100.00 | 100.00 | NM_005271.5 | |
| HADH | C | 100.00 | 100.00 | NM_005327.7 | |
| HK1 | C | 99.83 | 100.00 | NM_000188.3 | |
| HNF1A | C | 100.00 | 100.00 | NM_000545.8 | |
| HNF4A | C | 100.00 | 100.00 | NM_175914.5 | |
| INS | C | 100.00 | 100.00 | NM_000207.3 | |
| INSR | C | 99.97 | 99.97 | NM_000208.4 | |
| KCNJ11 | C | 100.00 | 100.00 | NM_000525.4 | |
| PGM1 | C | 97.9 | 99.75 | NM_002633.3 | |
| SLC16A1 | C | 99.9 | 100.00 | NM_003051.4 | |
| UCP2 | C | 99.99 | 100.00 | NM_003355.3 |
| Indicatie(s) |
|---|
| Hyperinsulinisme |
** 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