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.
Submit With Order
ARUP Consult®
Disease Topics
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.
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.
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.
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 Name | LOINC |
|---|---|---|
| 0051465 | Fam.Dysautonomia (IKBKAP) 2 Mut, Allele1 | 32653-8 |
| 0051466 | Fam.Dysautonomia (IKBKAP) 2 Mut, Allele2 | 32653-8 |
| 0051467 | Fam.Dysautonomia (IKBKAP) 2 Mut, Interp | 46992-4 |
| 2001327 | Fam.Dysautonomia (IKBKAP) 2 Mut, Spec |
Aliases
- Ashkenazi Jewish Genetic Screen