Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene
Use
This test is intended for individuals with clinical or suspected diagnosis of Short Chain Acyl-CoA Dehydrogenase Deficiency. It is also applicable for infants showing elevated C4 (butyrylcarnitine) levels on newborn screening, as well as reproductive partners of individuals with a known pathogenic variant in the ACADS gene.
Special Instructions
Tests are performed on samples submitted to PreventionGenetics LLC, following College of American Pathologists (CAP) and Clinical Laboratory Improvements Amendments (CLIA) regulations. Tests have not been cleared or approved by the US FDA.
Limitations
This test utilizes NGS technology which may not detect all variations associated with Short Chain Acyl-CoA Dehydrogenase Deficiency, particularly those in regions of low sequence complexity. CNV analysis is included, but coverage may be uneven.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided