Albinism laboratory findings

Albinism Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Albinism from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Albinism laboratory findings On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Albinism laboratory findings All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Albinism laboratory findings
CDC on Albinism laboratory findings
Albinism laboratory findings in the news
Blogs on Albinism laboratory findings
Directions to Hospitals Treating Albinism
Risk calculators and risk factors for Albinism laboratory findings

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

Laboratory Findings

• The laboratory tests for diagnosis of albinism include:
  • 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
    • 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 is required in patients with suspicious of Hermansky-Pudlak syndrome (HPS)
  • Evaluation of polymorphonuclear leukocyte function is required in patients with suspicious of Chediak-Higashi syndrome (CHS)