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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 IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo

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