| Panel naam | NGS Albinisme |
|---|---|
| Panel methode | Targeted NGS |
| Panel versie ** | AlbGOAv4 / ALBIv6 |
| Panel kwaliteit *** | A/C |
| Core-NL | Geen core-NL genen inbegrepen |
| CNV analyse | Nee |
| Locatie | Locatie AMC |
| Genen (33) | Kwaliteit | % coverage >30 | % coverage >20 | Core-NL | Notitie |
|---|---|---|---|---|---|
| AHR | C | ||||
| AP3B1 | A | 100.0 | 100.0 | ||
| AP3D1 | C | ||||
| BLOC1S3 | A | 100.0 | 100.0 | ||
| BLOC1S4 | C | ||||
| BLOC1S5 | C | ||||
| BLOC1S6 | A | 100.0 | 100.0 | ||
| COL18A1 | C | ||||
| DCT | C | ||||
| DTNBP1 | A | 100.0 | 100.0 | ||
| EPG5 | C | ||||
| FRMD7 | A | 100.0 | 100.0 | ||
| GNAI3 | C | ||||
| GPR143 | A | 100.0 | 100.0 | ||
| HPS1 | A | 100.0 | 100.0 | ||
| HPS3 | A | 100.0 | 100.0 | ||
| HPS4 | A | 100.0 | 100.0 | ||
| HPS5 | A | 100.0 | 100.0 | ||
| HPS6 | A | 100.0 | 100.0 | ||
| LRMDA | A | 100.0 | 100.0 | ||
| LYST | A | 100.0 | 100.0 | ||
| MC1R | A | 100.0 | 100.0 | ||
| MITF | A | 100.0 | 100.0 | ||
| MLPH | A | 100.0 | 100.0 | ||
| MYO5A | A | 100.0 | 100.0 | ||
| OCA2 | A | 100.0 | 100.0 | ||
| PAX6 | C | ||||
| RAB27A | A | 100.0 | 100.0 | ||
| SLC24A5 | A | 100.0 | 100.0 | ||
| SLC38A8 | A | 100.0 | 100.0 | ||
| SLC45A2 | A | 100.0 | 100.0 | ||
| TYR | A | 100.0 | 100.0 | ||
| TYRP1 | A | 100.0 | 100.0 |
| Indicatie(s) |
|---|
| Albinisme, recessief |
| Visus albinisme |
** 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