ACADM Gene Sequencing and Deletion/Duplication
Use
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
Typically used as follow‑up testing after biochemical results; method includes both sequencing and deletion/duplication analysis to capture a broader range of variant types.
Limitations
May not detect regulatory region variants, large complex genomic rearrangements, or structural variants beyond deletion/duplication; sequencing may miss noncoding deep intronic changes.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
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.