Dysautonomia, Familial (IKBKAP), 2 Variants

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Detected
Negative

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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. Frozen specimens in glass collection tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; 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.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

View Hotline History

 

Hotline History

Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
05/17/2021
X
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