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MOLECULAR Analysis:
Canavan Disease Carrier Testing
Canavan disease is a severe, progressive neurodegenerative disorder that results in reduced life expectancy. The disease is an autosomal recessive disorder which is caused by mutations in the ASPA gene and subsequent deficiency of the enzyme aspartoacylase. The carrier risk for Canavan disease in the Ashkenazi Jewish population is 1 in 40. The America College of Obstetricians and Gynecologists recommends that individuals of Ashkenazi Jewish descent be offered carrier screening for Canavan disease as part of routine obstetric care.
Canavan disease carrier testing by DNA analysis is offered as part of a genetic screening panel which also includes cystic fibrosis, Tay-Sachs disease, and familial dysautonomia. See Ashkenazi Jewish Genetic Screening - Panel 1 for testing information.
- Carrier screening
- Gamete donors
Direct mutation analysis: Our laboratory utilizes Amplification Refractory Mutation System (ARMS) technology to screen for 2 mutations relevant to the Ashkenazi Jewish population. The 2 mutations are E285A and Y231X.
The carrier detection rate for DNA analysis of Canavan disease in the Ashkenazi Jewish population is 97%.
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), 83909, 83912, 83914 (2X)
> Medical Genetics Test Requisition Form
> Standard DNA Consent Form
> Medical Genetics Specimen Transport and Shipping Information
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