Testing for Gaucher Disease

Gaucher Disease can be detected through a simple blood test. There are Gaucher specialists throughout the country who can diagnose, evaluate and recommend proper treatment. The testing process can be done at a hospital, Gaucher specialist’s office, or through your family physician. Your physician can draw blood that would then be sent to a specific laboratory for testing.

The NGF is committed to keeping the public informed about all aspects of Gaucher Disease, treatment options and services available for Gaucher patients and treaters. In furtherance of that commitment, the NGF would like to inform you about a change that has taken place in the availability of clinical laboratory testing services for Gaucher Disease. Generin Laboratories closed on December 31, 2004. In an effort to help treaters minimize delays in services to Gaucher patients, below, please find a list of labs that provide Gaucher-related testing. Other labs may also provide Gaucher testing, therefore, we have listed a website that you can visit for full information on labs in the United States.

Genetic Testing Website: www.genetests.org

Should you have any questions, please feel free to call Rivers Odendahl at 1-800-504-3189, or email her at rivers@gaucherdisease.org.

An enzyme assay test measures glucocerebrosidase (GC) activity in leukocytes, fibroblasts, or urine. Individuals who are affected with Gaucher Disease will have very low levels of enzyme activity. There are four common mutations of the GC gene: N370S, L444P, 84gg and IVS2[+1]. DNA analysis for these four mutations detects 90% to 95% of the mutations associated with Gaucher Disease in the Ashkenazi Jewish population, and 50% to 75% of the associated mutations in the general population. Neither disease type nor severity of disease is defined by enzyme assay. DNA analysis is used in combination with the enzyme assay test to diagnose Gaucher Disease and is helpful in defining the subtype.

Carrier Testing
Approximately 1 in 60,000 people have Gaucher Disease. However, among Jews of Eastern European (Ashkenazi) descent, one in 450 people will have the disorder, and the carrier rate is approximately 1 in 15. Carrier status can be detected through a simple blood test. The testing process can be done at a hospital, Gaucher specialist’s office, or through your family physician. Laboratory assay tests use chromosomes, DNA, RNA, and genes to determine the genetic status of a person who is at high risk for a particular condition. For detailed information on genetic testing, please contact one of these testing sites. In addition to Gaucher Disease, these sites also do testing for Fabry, MPS 1 and Pompe.

Testing Centers