Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Gaucher's disease laboratory findings
Introduction
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Overview
Overview
In populations with high rates of carriage (Ashkenazi Jews and Norrbottnian Swedes and a few African American tribes), some family members of the index patient may already have been diagnosed with Gaucher’s. Truly sporadic cases may suffer diagnostic delay due to the protean symptoms.
Laboratory Findings
Laboratory Findings
Complete blood count and differential count: anemia, neutropenia and thrombocytopenia
Biochemical abnormalities: high alkaline phosphatase, angiotensin-converting enzyme (ACE) and immunoglobulin levels.
Other tests include:
- Blood test to look for enzyme activity
- Bone marrow aspiration
- Genetic testing
References
References
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Cafer Zorkun, M.D., Ph.D. [2]