| Panel name | NGS Optic atrophy |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | AlbGOAv4 / DOAv2 |
| Panel quality *** | A/C |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Location | Location AMC |
| Genes (34) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| ACO2 | A | 100.0 | 100.0 | ||
| AFG3L2 | C | ||||
| AUH | A | 100.0 | 100.0 | ||
| C12orf65 | 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 | ||
| 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 |
| Indication(s) |
|---|
| Leber hereditary optic neuropathy LHON |
| Optic atrophy |
** 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