CACTZ - Overview: Carnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis

Test Catalog

Test Name

Test ID: CACTZ    
Carnitine-Acylcarnitine Translocase Deficiency, Full Gene Analysis

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

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

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
CULFBFibroblast 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 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

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

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


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

SLC25A20 Gene, Full Gene Analysis

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

CACT Deficiency