15 - 20 days
MCAD Deficiency Mutation Screen
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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.
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
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.