Carnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis
NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.
Confirmation of diagnosis of carnitine-acylcarnitine translocase (CACT) deficiency
Carrier screening in cases where there is a family history of CACT deficiency, but disease-causing mutations have not been identified in an affected individual
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
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 changed 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
Polymerase Chain Reaction (PCR) Followed by DNA Sequence 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
SLC25A20 Gene, Full Gene Analysis