CPT2Z - Overview: Carnitine Palmitoyltransferase II Deficiency, Full Gene Analysis

Test Catalog

Test Name

Test ID: CPT2Z    
Carnitine Palmitoyltransferase II Deficiency, Full Gene Analysis

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

Confirmation of diagnosis of carnitine palmitoyltransferase II deficiency


Carrier screening in cases where there is a family history of carnitine palmitoyltransferase II 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 will be added and charged 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.


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

CPT2 Gene, Full Gene Analysis

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

CPT II Deficiency
Carnitine palmitoyltransferase II