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MOLECULAR Analysis:
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.
- Carrier screening
- Gamete donors
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.
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.
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.
14 days.
83891, 83894, 83900, 83901 (2X), 83912
> Medical Genetics Test Requisition Form
> Standard DNA Consent Form
> Medical Genetics Specimen Transport and Shipping Information
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