Gaucher's disease laboratory findings: Difference between revisions
No edit summary |
No edit summary |
||
Line 16: | Line 16: | ||
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]] | ||
Latest revision as of 18:24, 31 August 2012
Gaucher's disease Microchapters |
Diagnosis |
---|
Treatment |
Case Studies |
Gaucher's disease laboratory findings On the Web |
American Roentgen Ray Society Images of Gaucher's disease laboratory findings |
Risk calculators and risk factors for Gaucher's disease laboratory findings |
Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
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