ACADVL Gene Sequencing and Deletion/Duplication
Use
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
Refer to the GeneDx Rare Mendelian Disorders Test Requisition Form for test code and ordering instructions.
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.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided