National Gaucher Foundation - Gaucher Disease
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Testing for Gaucher Disease

Gaucher Disease can be diagnosed early through a blood test. Carrier status can be detected through blood or saliva. 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 including treatment options, testing and services available for Gaucher patients, physicians and treatment providers. For your convenience, the NGF has provided a diagnostic lab list and other testing websites to assist you and your physician find Diagnostic and Gaucher testing labs throughout the country.

1) Diagnostic Lab List: Testing Centers

2) Genetic Testing Website: www.genetests.org, www.jscreen.org

3) Lab Corp: www.labcorp.com

Should you have any questions, please feel free to call NGF at 1-800-504-3189,
or email us at ngf@gaucherdisease.org.

Gaucher Disease Testing

If your physician suspects Gaucher disease or if Gaucher disease runs in your family, the diagnosis is made by checking levels of the enzyme associated with the disease, and possibly through genetic analysis.

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. DNA analysis is used in combination with the enzyme assay test to diagnose Gaucher Disease and is helpful in defining the subtype. Genetic mutation analysis highlights the most common and least common, genetic mutations usually associated with Gaucher disease and aids in classifying which type of Gaucher a person has. Neither disease type nor severity of disease is defined by enzyme assay.

Gaucher 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 10. Carrier status can be detected through a blood or saliva 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, you or your physician can visit any of the links listed above.