Dysautonomia, Familial (ELP1), 2 Variants

Casandra

Casandra Test Code AR44834Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3005882CPT Code 81260

Dysautonomia, Familial (ELP1), 2 Variants

Also known as: ELP1

Clinical Use

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Use

Familial dysautonomia is a debilitating disease caused by abnormal development and survival of sensory, sympathetic, and parasympathetic neurons. It manifests with symptoms like gastrointestinal dysfunction, vomiting and autonomic crises, recurrent pneumonia, altered sensitivity to pain and temperature, scoliosis, and cardiovascular instability. Additional characteristics include infantile hypotonia, deteriorating wide-based ataxic gait, and decreased life expectancy. It is most prevalent in individuals of Ashkenazi Jewish descent, with an incidence of 1 in 3,600. The condition is inherited in an autosomal recessive manner, and the test targets ELP1 pathogenic variants.

Special Instructions

Carrier screening or diagnostic testing is advised for familial dysautonomia in individuals of Ashkenazi Jewish descent. Counseling and informed consent are strongly recommended for genetic testing, with forms available online. This test is New York state approved, and informed consent is required for NY patients.

Limitations

Variants other than the two tested (p.R696P (c.2087G>C) and c.2204+6T>C) will not be detected. Diagnostic errors can occur due to rare sequence variations. The test has a clinical sensitivity of 99% in Ashkenazi Jewish individuals, though sensitivity in other ethnicities is unknown. It has an analytical sensitivity and specificity of 99%. The test was developed and its performance characteristics determined by ARUP Laboratories but has not been cleared or approved by the FDA.

Test Details

New York Approved