Test Catalog

Test ID: TPPTF    
Tripeptidyl Peptidase 1 (TPP1) and Palmitoyl-Protein Thioesterase 1 (PPT1), Fibroblasts

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

Evaluation of patients with clinical presentations suggestive of neuronal ceroid lipofuscinoses (NCL)

 

Aids in the differential diagnosis of infantile and late infantile NCL when fibroblasts are available

 

NCL testing in fibroblast specimens

Highlights

This fibroblast test is an appropriate first step for individuals who present between the ages of 0 and 4 with symptoms consistent with neuronal ceroid lipofuscinosis.

Additional Tests Lists tests that are always performed, at an additional charge, with the initial tests.

Test IDReporting NameAvailable SeparatelyAlways Performed
FIBRFibroblast CultureYesYes
CRYOBCryopreserve for Biochem StudiesNoYes

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

When this test is ordered, a fibroblast culture and cryopreservation for biochemical studies will always be performed at an additional charge. However, for multiple lysosomal enzyme assays on a patient utilizing fibroblast culture, only 1 culture is required regardless of the number of enzyme assays ordered. If viable cells are not obtained within 10 days, client will be notified.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

TPPTF: Fluorometric Enzyme Assay
CRYOB: Fibroblast Subculture Followed by Cryopreservation and Storage

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

TPP1 and PPT1, Fibroblasts

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

CLN1
CLN2
INCL
LINCL
NCL1
NCL2
Palmitoyl-Protein Thioesterase 1 (PPT1)
TPP1 (Tripeptidyl Peptidase 1)
NCL (Neuronal Ceroid Lipofuscinosis)
Batten disease