Icahn School of Medicine at Mount Sinai
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Genetic Testing Lab

Test Catalog Molecular Genetics Laboratory Familial Dysautonomia

Familial Dysautonomia

Test Description:
Familial dysautonomia (FD) is the most common form of congenital sensory neuropathy. It affects the development and survival of sensory, sympathetic, and parasympathetic neurons. FD is more prevalent in the Ashkenazi Jewish population, is inherited in an autosomal recessive manner, and has an incidence of 1 in 3600 live births in this population. Mutations in the IKBKAP gene have been shown to cause FD. A single mutation in this gene c.2204+6T>C (IVS20+6T>C) accounts for >99% of mutant alleles, with a carrier frequency of 1/31 in the Ashkenazi Jewish population. Another mutation, p.R696P, which has been found in a few families, is also tested. The American College of Obstetricians and Gynecologists and the American College of Medical Genetics recommend that carrier screening for FD be offered to individuals of Eastern European (Ashkenazi) Jewish ancestry before/during pregnancy.

Reference:
1. Slaugenhaupt SA et al. 2001. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am. J. Hum. Gen. 68.
2. Anderson SL et al. 2001. Familial Dysautonomia Is Caused by Mutations of the IKAP Gene. Am. J. Hum. Gen. 68.
3. Scott, S.A., Edelmann, L., Liu, L., Luo, M., Desnick, R.J. and Kornreich, R. Experience with carrier screening and prenatal diagnosis for sixteen Ashkenazi Jewish Genetic Diseases. Hum. Mutat. 31:1-11, 2010.

Specimen Requirements:
Two 5-10 ml tubes of anticoagulated blood. The preferred anticoagulant is EDTA (lavendar top tubes), ACD (yellow top) tubes are also accepted.

Shipping: Send at room temperature.

Turnaround Time: 10-14 days

CPT Codes: 83891, 83892x2, 83898, 83912, 83914x2

Consent and Requisition Forms: Carrier Screening Requisition and Consent [PDF]

Additional Information: Jewish Genetic Screening Brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Test Panel

Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss.