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Dysautonomia, Familial (ELP1), 2 Variants
Copy Utility
Ordering Recommendation
Carrier screening or diagnostic testing for familial dysautonomia in individuals of Ashkenazi Jewish descent.
Mnemonic
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Performed
Varies
Reported
5-10 days
New York DOH Approval Status
Specimen Required
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Refrigerated.
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
Reference Interval
By report
Interpretive Data
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)
Note
Hotline History
Hotline History
CPT Codes
81260
Components
| 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 |
Aliases
- IKBKAP
- Riley-Day syndrome
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