| Panel naam | NGS Dominante opticus atrofie |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | AlbGOAv4 / DOAv2 |
| Panel kwaliteit *** | A/C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (34) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| ACO2 | A | 100.0 | 100.0 | ||
| AFG3L2 | C | ||||
| AUH | A | 100.0 | 100.0 | ||
| C19orf12 | C | ||||
| CISD2 | A | 100.0 | 100.0 | ||
| DNAJC30 | C | ||||
| DNM1L | C | ||||
| HMBS | C | ||||
| KIF7 | C | ||||
| MFN2 | A | 100.0 | 100.0 | ||
| MIEF1 | C | ||||
| MTPAP | A | 100.0 | 100.0 | ||
| MTRFR | A | 100.0 | 100.0 | ||
| NBAS | A | 100.0 | 100.0 | ||
| NDUFAF5 | C | ||||
| NDUFS1 | A | 100.0 | 100.0 | ||
| NDUFS2 | C | ||||
| NDUFS3 | C | ||||
| NR2F1 | A | 100.0 | 100.0 | ||
| OPA1 | A | 100.0 | 100.0 | ||
| OPA3 | A | 100.0 | 100.0 | ||
| RTN4IP1 | A | 100.0 | 100.0 | ||
| SDHA | C | ||||
| SLC24A1 | A | 100.0 | 100.0 | ||
| SLC25A46 | A | 100.0 | 100.0 | ||
| SLC52A2 | C | ||||
| SPG7 | C | ||||
| SSBP1 | C | ||||
| TIMM8A | A | 100.0 | 100.0 | ||
| TMEM126A | A | 100.0 | 100.0 | ||
| TWNK | C | ||||
| UCHL1 | C | ||||
| WFS1 | A | 100.0 | 100.0 | ||
| YME1L1 | C |
| Indicatie(s) |
|---|
| Leber hereditary optische neuropathie LHON |
| Opticus atrofie/opticopathie, dominant |
** 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