Dysautonomia, Familial (IKBKAP) 2 Mutations
0051463
 
Ordering Recommendation
Diagnostic testing for familial dysautonomia. Carrier screening for familial dysautonomia.
Mnemonic
IKBKAP
Methodology
Polymerase Chain Reaction/Primer Extension
Performed
Tue, Thu
Reported
7-10 days
New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
 
Collect
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated.  
Unacceptable Conditions
 
Remarks
 
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report
Interpretive Data
Background information for Dysautonomia, Familial (IKBKAP) 2 Mutations:
Characteristics:
Debilitating disease of gastrointestinal dysfunction, vomiting and autonomic crises, recurrent pneumonia, altered sensitivity to pain and temperature, scoliosis, and cardiovascular instability. Other characteristics include infantile hypotonia, a broad-based ataxic gait that deteriorates, and decreased life expectancy.
Incidence:
1 in 3,600 Ashkenazi Jewish individuals, unknown in other ethnicities.
Inheritance:
Autosomal recessive.
Cause:
Pathogenic IKBKAP gene mutations.
Mutations Tested:
p.R696P (c.2087G>C) and c.2204+6T>C.
Clinical Sensitivity:
99 percent in Ashkenazi Jewish individuals, unknown in other ethnicities.
Methodology:
Multiplex polymerase chain reaction and Detection Primer Extension.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Mutations other than those tested will not be detected. Diagnostic errors can occur due to rare sequence variations.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
Note
CPT Code(s)
81260
Components
Component Test Code*Component Chart Name
0051465Fam.Dysautonomia (IKBKAP) 2 Mut, Allele1
0051466Fam.Dysautonomia (IKBKAP) 2 Mut, Allele2
0051467Fam.Dysautonomia (IKBKAP) 2 Mut, Interp
2001327Fam.Dysautonomia (IKBKAP) 2 Mut, Spec
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, contact interface support at interface.support@aruplab.com.
Cross References