Diagnostic testing for familial dysautonomia. Carrier screening for familial dysautonomia.
- 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.
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