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.
Indications for Testing
- Carrier screening
- Gamete donors
Testing Methodology
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.
Sensitivity
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.
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.
Turnaround Time
14 days.
CPT Codes
83891, 83894, 83900, 83901 (2X), 83909, 83912, 83914 (2X)
Forms and Transport & Shipping Information