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Familial Dysautonomia

Alternate test name
  • FD
  • Hereditary sensory and autonomic neuropathy type III
  • Riley-Day syndrome
Gene name / Alternate gene name
Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Lab area
Genome Diagnostics - Molecular Genetics
Method and equipment
Targeted analysis of recurrent mutations
Expected turn-around time
Pregnancy/STAT: 2-3 weeks Routine: 4-6 weeks
Specimen type

Blood; gDNA. 

For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).

Specimen requirements
  • Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate); 
  • DNA-minimum 10 ug in 100 uL low TE (pH8.0)
Storage and transportation

Room Temperature

For details about specimen requirements, please refer to:  Specimen Type and Requirements

Special requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Shipping information
The Hospital for Sick Children
Division of Genome Diagnostics
555 University Avenue, Black Wing, Room 3416
Toronto, ON
M5G 1X8
Phone: 416-813-7200 ext. 2
Hours: Monday to Friday, 8 a.m. to 4:30 p.m.
Off hours: Please send to Rapid Response Laboratory, 555 University Avenue, Room 3642
Email Molecular Lab:
Email Cytogenetics:
Background and clinical significance

Familial dysautonomia (FD) is a progressive degenerative disorder affecting the autonomic and sensory nervous systems. Some common features of FD include a decreased ability to feel pain or temperature sensations, blood pressure and body temperature fluctuations, difficulties feeding and swallowing, gastrointestinal motility problems, developmental delay, recurrent pneumonias and decreased stature. FD is an AR disorder caused by a mutation in the IKBKAP gene, located on chromosome 9 (9q31). Two mutations in the IKBKAP gene account for over 99% of the mutations seen in AJ individuals affected with FD.

See related information sheet: Ashkenazi Jewish Screening Panel

Disease condition

Familial Dysautonomia (part of the Ashkenazi Jewish screening panel)

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