| Panel naam | NGS Neonatale diabetes-mellitus |
|---|---|
| Panel methode | Wes-based NGS |
| Panel versie ** | |
| Panel kwaliteit *** | C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (21) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ABCC8 | C | 100.00 | 100.00 | NM_000352.6 | |
| EIF2AK3 | C | 99.96 | 100.00 | NM_004836.7 | |
| FOXP3 | C | 99.98 | 100.00 | NM_014009.4 | |
| GATA4 | C | 99.96 | 100.00 | NM_001308093.3 | |
| GATA6 | C | 99.99 | 100.00 | NM_005257.6 | |
| GCK | C | 100.00 | 100.00 | NM_000162.5 | |
| GLIS3 | C | 100.00 | 100.00 | NM_001042413.2 | |
| HNF1B | C | 100.00 | 100.00 | NM_000458.4 | |
| IER3IP1 | C | 100.00 | 100.00 | NM_016097.5 | |
| INS | C | 100.00 | 100.00 | NM_000207.3 | |
| KCNJ11 | C | 100.00 | 100.00 | NM_000525.4 | |
| MNX1 | C | 83.12 | 86.38 | NM_005515.4 | |
| NEUROD1 | C | 100.00 | 100.00 | NM_002500.5 | |
| NEUROG3 | C | 100.00 | 100.00 | NM_020999.4 | |
| NKX2-2 | C | 100.00 | 100.00 | NM_002509.4 | |
| PDX1 | C | 100.00 | 100.00 | NM_000209.4 | |
| PTF1A | C | 99.93 | 100.00 | NM_178161.3 | |
| RFX6 | C | 99.97 | 100.00 | NM_173560.4 | |
| SLC19A2 | C | 100.00 | 100.00 | NM_006996.3 | |
| SLC2A2 | C | 100.00 | 100.00 | NM_000340.2 | |
| ZFP57 | C | 100.00 | 100.00 | NM_001109809.5 |
| Indicatie(s) |
|---|
| Neonatale diabetes mellitus |
** 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