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MOLECULAR Analysis:
Familial Dysautonomia Carrier Testing
Familial dysautonomia is a severe, progressive neurodegenerative disorder that results in reduced life expectancy. The disease is caused by mutations in the IKBKAP gene. The carrier risk for familial dysautonomia in the Ashkenazi Jewish population is 1 in 32. The America College of Obstetricians and Gynecologists recommends that individuals of Ashkenazi Jewish descent be offered carrier screening for familial dysautonomia as part of routine obstetric care.
Familial dysautonomia carrier testing by DNA analysis is offered as part of a genetic screening panel which includes cystic fibrosis, Tay-Sachs disease, and Canavan disease. 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 2507+6T>C and R696P.
The carrier detection rate for DNA analysis of familial dysautonomia in the Ashkenazi Jewish population is 99%.
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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