OCULOCUTANAL ALBINISM (OCA): CLINICAL EXOME PANEL (Sec. & CNVs) – 26 genes

The Oculocutaneous Albinism (OCA) panel is designed to identify the genetic causes of pigmentation disorders affecting the skin, hair, and eyes, characterized by variable hypopigmentation, nystagmus, photophobia, decreased visual acuity, and optic nerve decussation abnormalities. Albinism can present as oculocutaneous (OCA) or as isolated ocular (OA1), and may or may not be associated with systemic syndromes such as Hermansky-Pudlak or Chediak-Higashi syndromes, which are characterized by hematological or immunological abnormalities. The pathologies covered by this panel include oculocutaneous albinism types 1-7 (OCA1-OCA7), X-linked ocular albinism (GPR143), Hermansky-Pudlak syndromes (HPS1, HPS3, HPS4, HPS5, HPS6), Chediak-Higashi syndrome (LYST), and Griscelli syndrome (RAB27A, MYO5A). The panel also includes genes related to melanosome biogenesis and intracellular trafficking of pigment proteins. Next-generation sequencing (NGS) and CNV analysis allow for the differentiation of syndromic and non-syndromic forms, providing crucial information for visual prognosis, dermatological follow-up, and family genetic counseling. Genes analyzed: TYR, OCA2, TYRP1, SLC45A2, GPR143, HPS1, LYST, RAB27A, MITF, MYO5A, and others. You can consult the complete list of analyzed genes by contacting Genotica.