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 tests that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial tests

Test IDReporting NameAvailable SeparatelyAlways Performed
CULFBFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situations 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 Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

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

Yes

Reporting Name A shorter or 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

CACTS
CACT Deficiency
SLC25A20