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 checking 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), which use a magnetic field and radio waves to create images, to help your doctor see whether you have an enlarged spleen or liver

Preconception screening and prenatal testing

If you're planning to become pregnant and you or your partner is of Ashkenazi Jewish heritage or has a family history of Gaucher's disease, talk to your doctor about genetic screening. If only one of you is Ashkenazi, that person should be screened first. If that person is found to be a carrier, the other partner may want to be screened, as well. If you're identified as a carrier, ask your doctor about genetic counseling.

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 look at the risks and benefits.

Jul. 08, 2011