Polymerase Chain Reaction (PCR)
Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (as a follow up to biochemical analyses). Screening of at-risk carriers of MCAD deficiency when an affected relative has not had molecular testing. Diagnosis of MCAD deficiency in autopsy specimens.
Interpretive report provided.
15 - 20 days
- MCAD Deficiency Mutation Screen
Collect blood in a lavender top (EDTA) or yellow top (ACD) tube and send intact whole blood specimen at room temperature; do not freeze. Include relevant clinical and family history. Bloodspot card also acceptable.
Test sent to Mayo Medical Laboratories.