Gaucher's disease laboratory tests: Difference between revisions

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{{Gaucher's disease}}


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==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
==References==
{{Reflist|2}}
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Latest revision as of 02:55, 22 August 2012