Medium Chain Acyl‑CoA Dehydrogenase (MCAD) Mutation Analysis
Use
This test identifies individuals affected by or carriers of medium‑chain acyl‑CoA dehydrogenase (MCAD) deficiency, a mitochondrial fatty acid oxidation disorder. It is used for diagnosis and screening, including in prenatal settings such as amniocytes, chorionic villi, cultured cells, and blood sampling, to detect pathogenic variants in the ACADM gene.
Special Instructions
Fetal testing requires documentation of parental variants and consultation with Quest Genetic Counselors via GeneInfo at 866‑463‑3443. Informed consent may be required per applicable state law. Genetic counseling (pre‑ and post‑test) is not required.
Limitations
Analytical sensitivity and specificity are approximately 99%. Variants of uncertain significance (VUS) interpretation policies are not specified. The assay uses targeted SNP variant analysis; it may not detect all variant types or novel changes beyond targeted regions.
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 32628-0
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5 mL (3 mL minimum)
Minimum Volume
3 mL
Container
EDTA (lavender‑top) tube
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 8 days |
| Refrigerated | 8 days |
| Frozen | Unacceptable |
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