Casandra
Casandra Test Code GE42815Version 1 (DRAFT)
Performing Lab
ACADM Gene Sequencing and Deletion/Duplication
Clinical Use
Order TestUse
Diagnosis of medium-chain acyl‑CoA dehydrogenase (MCAD) deficiency, confirmation following biochemical testing or carrier screening, and evaluation of at‑risk individuals with family history of MCAD deficiency.
Special Instructions
Not provided.
Limitations
May not detect regulatory region variants, large complex genomic rearrangements, or structural variants beyond deletion/duplication; sequencing may miss noncoding deep intronic changes.
Test Details
Methodology
NGS (Targeted)
Biomarkers
ACADM
GeneSNV/Indel
Mutation • Categorical (e.g., Positive / Negative / Indeterminate)
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen Requirements
Specimen
Whole Blood
Volume
3 mL normal, minimum 1 mL
Minimum Volume
1 mL
Container
Lavender top (EDTA) or yellow top (ACD) tube
Collection Instructions
Collect intact whole blood; do not freeze.
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