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