|Test||MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE (MCAD) DEFICIENCY, KNOWN MUTATION|
|Methodology||Polymerase Chain Reaction (PCR) Amplification/DNA
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
|Description||Useful for confirmation of diagnosis of MCAD deficiency (as a follow up to biochemical analyses) for individuals from families in which a known familial mutation(s) has been previously identified.
Also useful for carrier screening for individuals at risk for known familial mutation(s) of MCAD deficiency.
|Specimen||All specimens should include a "Molecular Genetics Congenital Disorders Request Form" (Supply T245) with information including relevant clinical and family history. This form is supplied by NorDx. Specimens must arrive within 96 hours of collection.
SUBMIT ONLY 1 OF THE FOLLOWING SPECIMENS:
|Reference Values||An interpretive report will be provided.|
|Analytic Time||7 Days|
|Day(s) Test Set Up||Monday, Thursday|