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

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]

## Overview[edit | edit source]

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.

## Laboratory Findings[edit | edit source]

* 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)

## References[edit | edit source]

1. ↑ Grønskov K, Ek J, Brondum-Nielsen K (2007). "Oculocutaneous albinism". Orphanet J Rare Dis. 2: 43. doi:10.1186/1750-1172-2-43. PMC 2211462. PMID 17980020.CS1 maint: Multiple names: authors list (link)
2. ↑ "Albinism - StatPearls - NCBI Bookshelf".

Template:WS Template:WH