Dysautonomia, Familial (IKBKAP), 2 Variants
0051463
Ordering Recommendation
Carrier screening or diagnostic testing for familial dysautonomia for individuals of Ashkenazi Jewish descent.
Mnemonic
IKBKAP
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Tue, Fri
Reported
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
- 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
- Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes.
- Remarks
- Stability
- Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month
Reference Interval
By report
Interpretive Data
Background information for Dysautonomia, Familial (IKBKAP), 2 Variants:
Characteristics: 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.
Inheritance: Autosomal recessive.
Cause: 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.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: 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.
Characteristics: 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.
Inheritance: Autosomal recessive.
Cause: 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.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: 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: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.
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.
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0051465 | Fam. Dysautonomia (IKBKAP), Allele 1 | 32653-8 |
| 0051466 | Fam. Dysautonomia (IKBKAP), Allele 2 | 32653-8 |
| 0051467 | Fam. Dysautonomia (IKBKAP), Interp | 46992-4 |
| 2001327 | Fam. Dysautonomia (IKBKAP), Specimen |
Aliases
- Riley-Day syndrome