List of diseases covered by
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
NGS panel
| Gene | Condition |
| AP3B1 | Hermansky-Pudlak syndrome 2 |
| AP3D1 | Hermansky-Pudlak syndrome 10 |
| BLOC1S3 | Hermansky-Pudlak syndrome 8 |
| BLOC1S5 | Hermansky-Pudlak syndrome |
| BLOC1S6 | Hermansky-pudlak syndrome 9 |
| CACNA1F | Aland Island eye disease; Cone-rod dystrophy, X-linked, 3; Night blindness, congenital stationary (incomplete), 2A, X-linked |
| DTNBP1 | Hermansky-Pudlak syndrome 7 |
| GPR143 | Nystagmus 6, congenital, X-linked; Ocular albinism, type I, Nettleship-Falls type |
| HPS1 | Hermansky-Pudlak syndrome 1 |
| HPS3 | Hermansky-Pudlak syndrome 3 |
| HPS4 | Hermansky-Pudlak syndrome 4 |
| HPS5 | Hermansky-Pudlak syndrome 5 |
| HPS6 | Hermansky-Pudlak syndrome 6 |
| LRMDA | Albinism, oculocutaneous, type VII |
| LYST | Chediak-Higashi syndrome |
| MC1R | Skin/hair/eye pigmentation 2, blond hair/fair skin; Albinism, oculocutaneous, type II, modifier of; Melanoma, cutaneous malignant, 5; |
| OCA2 | Albinism, oculocutaneous, type II |
| RAB27A | Griscelli syndrome, type 2 |
| SLC24A5 | Albinism, oculocutaneous, type VI |
| SLC45A2 | Albinism, oculocutaneous, type IV |
| TYR | Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB; Waardenburg syndrome/albinism, digenic |
| TYRP1 | Albinism, oculocutaneous, type III |