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Test ID: VLCKM    
Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Known Mutation

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.

Conditional

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnostic confirmation of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency when familial mutations have been previously identified

 

Carrier screening of at-risk individuals when a mutation in the ACADVL gene has been identified in an affected family member

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)/DNA Sequencing Analysis
(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

VLCAD Deficiency, Known Mutation

Aliases Lists additional common names for a test, as an aid in searching

ACADVL (Acyl-CoA Dehydrogenase Deficiency)
Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency