Dysautonomia, Familial (IKBKAP), 2 Variants
Ordering Recommendation

Carrier screening or diagnostic testing for familial dysautonomia for individuals of Ashkenazi Jewish descent.

Polymerase Chain Reaction/Fluorescence Monitoring
Tue, Fri
5-10 days
New York DOH Approval Status
This test is New York DOH approved.
Submit With Order
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B). 
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL) 
Storage/Transport Temperature
Unacceptable Conditions
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. 
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month 
Reference Interval
By report
Interpretive Data
Background information for Dysautonomia, Familial (IKBKAP), 2 Variants:
Familial dysautonomia is a debilitating disease caused by abnormal development and survival of sensory, sympathetic and parasympathetic neurons. Symptoms include gastrointestinal dysfunction, vomiting and autonomic crises, recurrent pneumonia, altered sensitivity to pain and temperature, scoliosis, and cardiovascular instability. Other characteristics include infantile hypotonia, deteriorating wide-based ataxic gait, and decreased life expectancy.
Incidence: 1 in 3,600 Ashkenazi Jewish individuals.
Autosomal recessive.
IKBKAP pathogenic variants.
Variants Tested:
p.R696P (c.2087G>C) and c.2204+6T>C.
Clinical Sensitivity:
99 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
99 percent.
Variants other than p.R696P (c.2087G>C) and c.2204+6T>C will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Component Test Code*Component Chart NameLOINC
0051465Fam. Dysautonomia (IKBKAP), Allele 132653-8
0051466Fam. Dysautonomia (IKBKAP), Allele 232653-8
0051467Fam. Dysautonomia (IKBKAP), Interp46992-4
2001327Fam. Dysautonomia (IKBKAP), Specimen
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
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