Medical Genetics

Gaucher Disease Carrier Testing

Gaucher disease is an autosomal recessive disorder which is caused by mutations in the GBA gene and subsequent deficiency of the enzyme glucocerebrosidase. The clinical findings are variable. Symptoms include fatigue, enlarged liver and spleen, and bone and joint pain. Some individuals with Gaucher disease may be moderately affected while others are chronically ill. Some individuals with the disease may also be asymptomatic. The carrier risk for Gaucher disease in the Ashkenazi Jewish population is 1 in 15.

Gaucher disease carrier testing by DNA analysis is a genetic screening test offered to the Ashkenazi Jewish population. See Ashkenazi Jewish Genetic Screening - Panel 1 and Ashkenazi Jewish Genetic Screening - Panel 2 for testing information on other disorders.

Indications for Testing

Carrier screening

Gamete donors

Testing Methodology

Direct mutation analysis: Our laboratory utilizes Amplification Refractory Mutation System (ARMS) technology to screen for 5 mutations relevant to the Ashkenazi Jewish population. The 5 mutations are N370S, IVS2+1, 84GG, L444P, and R496H.

Sensitivity

The carrier detection rate for DNA analysis of Gaucher disease in the Ashkenazi Jewish population is 95%.

This carrier screening test is most appropriate for individuals of Ashkenazi Jewish descent. This test may not be appropriate for individuals from other ethnic backgrounds. The sensitivity of this carrier screen in non-Jewish populations has not been established. This test is not appropriate for fetal diagnosis or diagnosis of individuals with clinical phenotype.

Specimen Requirements

Blood: 5 cc whole blood collected in a purple top (EDTA) or yellow top (acid citrate dextrose) vacutainer tube. Do not centrifuge or freeze. Sample may be refrigerated or stored at room temperature.