Belgian Genetic Tests database
Oculocutaneous albinism / Ocular albinism - UGent
| Full name: |
Oculocutaneous albinism / Ocular albinism - UGent
|
| Abbreviation: |
OCA/OA
|
| Description: |
Second line testing after targeted testing of ocular albinism type 1 and/or oculocutaneous albinism type 1, 2, 3, 5, 6, 7
|
| Type of panel: | |
| Version number: |
v2
|
| Laboratory: | |
| Created: |
17 Dec 2019 - 16:24
|
| Changed: |
16 Dec 2022 - 12:54
|
| Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
|---|---|---|---|
| AHR | 99.79 | 1 | |
| AP3B1 | 99.89 | 1 | |
| AP3D1 | 100.00 | 1 | |
| BLOC1S3 | 100.00 | 1 | |
| BLOC1S5 | 99.80 | 1 | |
| BLOC1S6 | 99.98 | 1 | |
| DCT | 99.98 | 1 | |
| DTNBP1 | 99.89 | 1 | |
| EPG5 | 99.95 | 1 | |
| FRMD7 | 99.97 | 1 | |
| GPR143 | 99.60 | 1 | |
| HPS1 | 100.00 | 1 | |
| HPS3 | 99.91 | 1 | |
| HPS4 | 99.98 | 1 | |
| HPS5 | 99.91 | 1 | |
| HPS6 | 100.00 | 1 | |
| LRMDA | 99.87 | 1 | |
| LYST | 99.87 | 1 | |
| MC1R | 100.00 | 1 | |
| MITF | 99.98 | 1 | |
| MLPH | 100.00 | 1 | |
| MYO5A | 99.94 | 1 | |
| OCA2 | 99.60 | 1 | |
| PAX6 | 99.95 | 1 | |
| RAB27A | 99.94 | 1 | |
| SLC24A5 | 99.99 | 1 | |
| SLC38A8 | 99.99 | 1 | |
| SLC45A2 | 100.00 | 1 | |
| TYR | 100.00 | 1 | |
| TYRP1 | 99.97 | 1 |