Dysautonomia, Familial (IKBKAP), 2 Variants

0051463
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Additional Technical Information
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.
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.

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.

Note
Hotline History
N/A
CPT Codes

81260

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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
* 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.
Aliases
  • Riley-Day syndrome
Dysautonomia, Familial (IKBKAP), 2 Variants