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 inherited in an autosomal recessive manner and is more prevalent in the Ashkenazi Jewish population, where it has an incidence of 1 in 3600 live births. Mutations in the IKBKAP gene have been shown to cause FD. A single IKBKAP mutation, c.2204+6T>C (IVS20+6T>C), accounts for >99% of mutant alleles, with a carrier frequency of 1 in 31 in the Ashkenazi Jewish population. The p.R696P mutation, which has been identified in several Ashkenazi Jewish 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 or during pregnancy.

Full gene sequencing is available for reproductive partners of known mutation carriers. Prenatal diagnosis is also available. Prior to ordering prenatal testing, please contact our laboratory at 212-241-7518 to discuss. 


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:

Post-natal: Two 5-10 mL tubes of anticoagulated blood in EDTA (lavender top) or two 5-10 mL tubes of anticoagulated blood in ACD (yellow top). 


  • Chorinic Villi: 5-10 mg in conical tube with sterile saline OR transport media
  • Amniotic Fluid: 10 ml in conical tube
  • Cultured Cells: two confluent T-25 flasks

Additionally, please send: 

  • 5-10 ml maternal blood in EDTA (lavender top) required to perform MCC studies on all prenatal samples and in case maternal confirmation studies are necessary
  • 5-10 ml paternal blood in EDTA (lavender top) in case paternal confirmation studies are necessary

Shipping: Ship at room temperature.

Turnaround Time: 10-14 days

CPT Code: 81260

Consent and requisition forms: Carrier Screening Requisition and Consent [PDF]

Additional information: Expanded Ashkenazi Jewish Carrier Screening brochure [PDF]

Related Tests: Ashkenazi Jewish Carrier Screening Panel