Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency, Known Mutation
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Confirmation of diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency for individuals from families in which known familial mutations have been previously identified
Carrier screening for individuals at risk for known familial mutation(s) of MCAD deficiency
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Documentation of the specific familial mutation(s) must be provided with the specimen in order to perform this test.
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
Polymerase chain reaction (PCR) amplification/DNA sequencing are utilized to test for the presence of a specific mutation previously identified in an affected family member.
(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, Known Mutation