| Panel name | NGS Congenital stationary nightblindness |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | AlbGOAv4 / CSNBv3 |
| Panel quality *** | A/C |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Location | Location AMC |
| Genes (22) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| CABP4 | A | 100.0 | 100.0 | ||
| CACNA1F | A | 100.0 | 100.0 | ||
| CACNA2D4 | A | 100.0 | 100.0 | ||
| CHM | C | ||||
| CYP4V2 | A | 100.0 | 100.0 | ||
| GNAT1 | A | 100.0 | 100.0 | ||
| GNB3 | A | 100.0 | 100.0 | ||
| GPR179 | A | 100.0 | 100.0 | ||
| GRK1 | A | 100.0 | 100.0 | ||
| GRM6 | A | 100.0 | 100.0 | ||
| GUCY2D | C | ||||
| LRIT3 | A | 100.0 | 100.0 | ||
| NYX | A | 100.0 | 100.0 | ||
| PDE6B | A | 100.0 | 100.0 | ||
| RDH5 | A | 100.0 | 100.0 | ||
| RHO | A | 100.0 | 100.0 | ||
| RIMS2 | C | ||||
| RLBP1 | A | 100.0 | 100.0 | ||
| RPE65 | A | 100.0 | 100.0 | ||
| SAG | A | 100.0 | 100.0 | ||
| SLC24A1 | A | 100.0 | 100.0 | ||
| TRPM1 | A | 100.0 | 100.0 |
| Indication(s) |
|---|
| Night blindness congenital stationery |
** 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