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:
PathogenicIKBKAP 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.





See Compliance Statement C: www.aruplab.com/CS
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.
 
Note
 
CPT Code(s)
81260
Components
Component Test Code*Component Chart NameLOINC
0051465Fam.Dysautonomia (IKBKAP) 2 Mut, Allele132653-8
0051466Fam.Dysautonomia (IKBKAP) 2 Mut, Allele232653-8
0051467Fam.Dysautonomia (IKBKAP) 2 Mut, Interp46992-4
2001327Fam.Dysautonomia (IKBKAP) 2 Mut, Spec 
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Aliases
  • Ashkenazi Jewish Genetic Screen