| Panel name | NGS Vision disorder Albinism |
|---|---|
| Panel method | Targeted NGS |
| Panel version ** | AlbGOAv4 / ALBIv6 |
| Panel quality *** | A/C |
| Core-NL | No core-NL genes included |
| CNV analysis | No |
| Location | Location AMC |
| Genes (33) | Quality | % coverage >30 | % coverage >20 | Core-NL | Note |
|---|---|---|---|---|---|
| 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 |
| Indication(s) |
|---|
| Albinism, recessive |
| Ocular albimism |
** 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