Casandra
Casandra Test Code QD53461Version 1 (DRAFT)
Performing Lab
Familial Dysautonomia Mutation Analysis
Clinical Use
Order TestUse
This test analyzes mutations in the ELP1 gene (9q31.3) associated with familial dysautonomia to aid in diagnosis and carrier screening, especially among individuals of Ashkenazi Jewish descent where the carrier rate is approximately 1 in 40, and detecting ~99.5% of FD mutations in that population. ([ncbi.nlm.nih.gov](https://www.ncbi.nlm.nih.gov/gtr/tests/508012/?utm_source=openai))
Special Instructions
Not provided.
Limitations
Not provided.
Test Details
Methodology
NGS (Targeted)
Biomarkers
ELP1
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
LOINC Codes
Order Codes
- 32653-8 - DYS gene Mut Anl Bld/T
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
Container
EDTA (royal blue-top) tube; ACD (yellow-top) tube; sodium or lithium heparin (green-top) tube
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | No change |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |
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