Casandra
Casandra Test Code PG91752Version 1 (DRAFT)
Performing Lab
Short Chain Acyl-CoA Dehydrogenase Deficiency via the ACADS Gene
Clinical Use
Order TestUse
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
Not provided.
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.
Test Details
New York Approved
Methodology
NGS
Biomarkers
ACADS
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided