Test ID: MCADS
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Mutation Screen
NY State Approved 
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Yes
Useful For Suggests clinical disorders or settings where the test may be helpful
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
Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)
| Test ID | Reporting Name | Available Separately | Always Performed |
|---|---|---|---|
| FBC | Fibroblast Culture for Genetic Test | Yes | No |
Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.
If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.
Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test
Method Name A short description of the method used to perform the test
Polymerase Chain Reaction (PCR) Amplification/DNA sequencing are utilized to test for the presence of a mutation in all 12 exons of the MCAD gene (ACADM).
(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)
Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name
MCAD Mutation Screen
Aliases Lists additional common names for a test, as an aid in searching
985A>G
ACADM
K304E
MCAD Gene Sequence Analysis
ACADM
K304E
MCAD Gene Sequence Analysis
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