Casandra
Casandra Test Code GE99067Version 1 (DRAFT)
Performing Lab
Lab GeneDxLab Test ID N/A
ACADVL Gene Sequencing and Deletion/Duplication
Clinical Use
Order TestUse
This test analyzes the ACADVL gene (encoding very‐long‐chain acyl‐CoA dehydrogenase) using both sequencing and deletion/duplication methods to detect variants that may cause VLCAD deficiency. It is designed for diagnostic evaluation in individuals suspected of having VLCAD deficiency based on clinical features.
Special Instructions
Not provided.
Limitations
As with other deletion/duplication and sequencing tests, some structural variants or low‐level mosaic variants may not be detected depending on assay design; confirmatory testing may be required. Coverage or analytic limits are not detailed in provided content.
Test Details
Methodology
NGS (Targeted)
Biomarkers
ACADVL
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
0 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided
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