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Tests and diagnosis
By Mayo Clinic staff
Making the diagnosis
If your doctor suspects Gaucher's disease or if Gaucher's disease runs in your family, the diagnosis is made by evaluating levels of the enzyme associated with the disease, and possibly through genetic analysis:
- Enzyme analysis. Using a blood test, doctors can measure your levels of glucocerebrosidase. People with Gaucher's disease have low levels of this enzyme in their bloodstream. If you're a carrier of the gene responsible for Gaucher's — but don't have the disease itself — you'll have an intermediate enzyme level that falls between those of affected people and those who aren't carriers.
- Genetic mutation analysis. This test looks for the four most common, as well as some less common, genetic mutations known to be associated with Gaucher's disease. However, because it's unlikely that all of the genetic mutations involved in Gaucher's have been identified, this test isn't considered definitive. It can be used to help classify which type of Gaucher's you or your child has.
Tracking the progression
If you receive a diagnosis of Gaucher's disease, your doctor may recommend periodic tests to track its progression. These may include imaging tests such as:
- Dual energy X-ray absorptiometry (DXA), which uses low-level X-rays to measure bone density, including changes over time
- Magnetic resonance imaging (MRI) scans, which use magnetic fields and radio waves to create images, to help your doctor see whether you have an enlarged spleen or liver
Prenatal testing
For pregnant women who are carriers of the Gaucher's gene, doctors may recommend prenatal testing for genetic mutations that can determine whether the fetus is at risk of Gaucher's disease. Tests that evaluate cells in the amniotic fluid (amniocentesis) or evaluate tissue from the placenta (chorionic villus sampling) can detect all types of Gaucher's in the fetus. If you're considering one of these tests, ask your doctor for a referral to a genetic counselor who can help you assess the risks and benefits.
- Eng CM. Genetics; clinical manifestations; and diagnosis of Gaucher disease. http://www.uptodate.com/home/index.html. Accessed May 22, 2009.
- Lysososmal storage disorders. The Merck Manuals: The Merck Manual for Healthcare Professionals. http://www.merck.com/mmpe/print/sec19/ch296/ch296f.html. Accessed May 26, 2009.
- Learning about Gaucher disease. National Human Genome Research Institute. http://www.genome.gov/25521505. Accessed May 27, 2009.
- NINDS Gaucher's disease information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/gauchers/gauchers.htm. Accessed May 27, 2009.
- Hopkin RJ, et al. Lysosomal storage diseases. In: Fauci AS, et al. Harrison's Principles of Internal Medicine. 17th ed. New York, N.Y.: McGraw-Hill Medical; 2008. http://www.accessmedicine.com/content.aspx?aID=2903685. Accessed May 27, 2009.
- Beutler E. Lipid storage diseases. In: Lichtman MA, et al. Williams Hematology. 7th ed. New York, N.Y.: McGraw-Hill Medical; 2006. http://www.accessmedicine.com/content.aspx?aID=2146463. Accessed May 27, 2009.
- Anderson HC, et al. Individualization of long-term enzyme replacement therapy for Gaucher disease. Genetics in Medicine. 2005;7:105.
- Zavesca (prescribing information). San Francisco, Calif.: Actelion Pharmaceuticals Inc.; 2008. http://www.zavesca.com/pdfs/zavesca_pi.pdf. Accessed May 26, 2009.
