Familial Dysautonomia

Alternate test name

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

Gene name / Alternate gene name

IKBKAP
DYS, IKAP

Protein

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

Canada

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: molecular.lab@sickkids.ca

Email Cytogenetics: cytogenetics.requests@sickkids.ca

Requisition

Familial Dysautonomia - requisition

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)