| Panel naam | NGS Congenitale stationaire nachtblindheid |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | AlbGOAv4 / CSNBv3 |
| Panel kwaliteit *** | A/C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (22) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| 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 |
| Indicatie(s) |
|---|
| Congenitaal stationaire nachtblindheid |
** 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