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Paediatric Laboratory Medicine

Familial Dysautonomia: IBKAP Recurrent Mutations

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.

Test Name

Familial Dysautonomia: IBKAP Recurrent Mutations

Alternate Name/ Synonym

  • FD
  • Hereditary sensory and autonomic neuropathy type III
  • Riley-Day syndrome

Gene Name

  • IKBKAP

Alternate Gene Name

DYS, IKAP

Test Code

FD

Division

Molecular Genetics

Method

Targeted analysis of recurrent mutations

External Proficiency Testing

CAP

Turn Around Time

2 weeks (Prenatal samples), 2-3 weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine)

Protein

Inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein

Disease/Condition

Familial Dysautonomia (part of the Ashkenazi Jewish screening panel)

Specimen Type

Blood; gDNA. 

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

Minimum Specimen Requirements

5-10 mL EDTA or ACD 0.5 mL EDTA (neonate); minimum 10 ug in 100 uL low TE (pH8.0)

Storage/Transportation

Room Temperature

Special Requirements

Special Instructions for Genome Diagnostics Samples

If sample shipment >48 hours, ship on ice.

Approval is not required

CPT Codes

81479

Shipping and Contact Information

The Hospital for Sick Children
Rapid Response Laboratory
170 Elizabeth Street, Room 3642
Toronto, ON
M5G 2G3
Canada
Phone: 416-813-7200
Phone: 1-855-381-3212

Interpretation

Interpretation is provided in report