Dysautonomia, Familial (ELP1), 2 Variants
Carrier screening or diagnostic testing for familial dysautonomia in individuals of Ashkenazi Jewish descent.
New York DOH Approval Status
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Plasma or serum. Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.
Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month
Polymerase Chain Reaction/Fluorescence Monitoring
Refer to report
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the U.S. 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.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|3005883||Fam. Dysautonomia (ELP1), Specimen||31208-2|
|3005884||Fam. Dysautonomia (ELP1), Allele 1||32653-8|
|3005885||Fam. Dysautonomia (ELP1), Allele 2||32653-8|
|3005886||Fam. Dysautonomia (ELP1), Interp||46992-4|
- Riley-Day syndrome