Due to the considerable phenotypic overlap of different types of Oculocutaneous Albinism (OCA), molecular testing using a multigene panel or comprehensive genome sequencing is generally preferred for a precise diagnosis and is available for most types of OCA.
Using family tree combined with a clinical assessment can get you close. But a targeted sequencing panel looking for mutations in known genes that cause albinism would be the best way to do this.
Melanin, a black or brown pigment formed from tyrosine, is responsible for the color of skin and hair. Melanin is synthesized in melanocytes, which are specialized, dendritic secretory cells derived from the neural crest. These cells migrate to the basal layer of the epidermis during embryogenesis. The presence of melanin in the epidermis helps provide protection from ultraviolet radiation.
Disorders include decreased and excessive pigmentation.
Oculocutaneous albinism is a group of rare disorders caused by various gene mutations, but the most well known is the gene encoding tyrosinase, which catalyzes several steps in the production of melanin. Obviously in OCA, you'll have less melanin and this gives people with the disease the characteristic depigmented appearance. The disease is inherited in an autosomal recessive pattern (so both parents must have at least one of the mutated alleles).