- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|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|
- Ashkenazi Jewish Genetic Screen