Albinism laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

The laboratory tests for diagnosis of albinism include hair bulb assay for determination of tyrosinase activity, Genetic sequence testing which is the most definite test, bleeding tests in suspected patients with Hermansky-Pudlak syndrome, and evaluation of polymorphonuclear leukocyte function in suspected patients with Chediak-Higashi syndrome.

• The laboratory tests for diagnosis of albinism include:^[1][2]
  • Hair bulb assay for determination of tyrosinase activity
    • This test is not sensitive because a negative test may indicate OCA1 but even with positive test results, patients might have OCA 1, OCA 2, OCA 3, or OA 1
  • Genetic sequence testing
    • The most definite test in diagnosis of albinism
    • This test is useful among individuals with familial history of albinism
    • Genetic testing can be done to determine if a fetus had albinism
  • Bleeding tests
    • Assessment of bleeding time, platelet aggregation, and platelet electron microscopy are required in patients with suspected Hermansky-Pudlak syndrome (HPS)
  • Evaluation of polymorphonuclear leukocyte function is required in patients with suspected Chediak-Higashi syndrome (CHS)

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