Gaucher's disease laboratory findings: Difference between revisions
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Other tests include: | Other tests include: | ||
* Blood test to look for enzyme activity | * Blood test to look for enzyme activity | ||
* Bone marrow aspiration | * [[Bone marrow aspiration]] | ||
* Genetic testing | * [[Genetic testing]] | ||
==References== | ==References== | ||
Latest revision as of 18:24, 31 August 2012
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Gaucher's disease Microchapters |
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Diagnosis |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]
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
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