Gaucher's disease laboratory tests: Difference between revisions
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==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. | Biochemical abnormalities: high [[alkaline phosphatase]], [[angiotensin-converting enzyme]] (ACE) and [[immunoglobulin]] levels. | ||
Revision as of 20:25, 21 August 2012
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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