Type 1 Gaucher's Diagnosis and Screening

A Simple Blood Test Can Be Done

Type 1 Gaucher’s disease is a metabolic disorder that can easily be diagnosed and identified early through a simple blood test. Since the disease is the result of a genetic mutation passed down through your family, your doctor may test you for it if there’s a family history of Gaucher’s disease already present.

Here, we’ll discuss the process of testing for the disease itself, how that differs from testing to see whether you carry the mutation responsible for the disease, and any special considerations for preconception and prenatal testing.

Testing for Type 1 Gaucher’s Disease
The disease is diagnosed using a simple blood test that can be administered at any of the following locations:

  • Your doctor’s office
  • Gaucher’s disease specialist’s office
  • Hospital
  • Clinical laboratory

Once they draw your blood intravenously, an enzyme analysis will be conducted. The enzyme analysis will measure how much glucocerebrosidase is in your bloodstream. Glucocerebrosidase is an enzyme that is found in our tissues, and it is needed for your body to break down fatty substances so they don’t accumulate to dangerous levels. If this enzyme in your bloodstream is low, it is a good indicator of Gaucher’s disease.

Testing to See Whether You Carry the Genetic Mutation
It is possible for you to be a carrier of the genetic mutation that causes the disease, and not actually have the disease yourself.

To check your carrier status, your doctor can perform a simple blood test (administered the same way as testing for the disease itself) or saliva test.

The test for carrier status is called a genetic mutation analysis and looks for 4 common mutations of the glucocerebrosidase gene that are known to cause Gaucher’s disease. A genetic mutation analysis will determine your genetic status and whether you’re a carrier through evaluating your:

  • Chromosomes
  • DNA
  • RNA
  • Genes

Genetic testing can identify up to 95% of carriers.

Preconception and Prenatal Testing Considerations for Gaucher’s Disease
If you’re interested in starting a family, let your doctor know whether you have a family history of Gaucher’s disease, or whether your partner is of Jewish Ashkenzi descent (meaning he or she has family from Northern, Eastern, and Central Europe).

Your doctor may want to genetically screen you for the disease before pregnancy. If it is determined you or your partner are a carrier, your doctor may recommend genetic counseling to further assess the risks and benefits, and explore other family planning options.

If you’re pregnant and carry the Gaucher’s disease genetic mutation, your doctor may administer a prenatal test to determine whether the fetus is at risk for the disease. The test can detect the disease through evaluating:

  • Amniotic fluid cells
  • Placenta tissue

Again, genetic counseling may be recommended to help you determine the benefits and risks associated with the disease and pregnancy.

Diagnosing Gaucher’s disease and screening for carriers of the genetic mutation that causes the disease can be done at any time through very simple in-office blood and/or saliva tests. Be sure to tell your doctor if you have any known family history of Gaucher’s disease or any other genetic diseases.

Updated on: 08/10/12
Continue Reading:
Type 1 Gaucher’s Disease Treatments