Methodology
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Synonyms
CLN1; CLN2; PPT1; TPP1; Palmitoyl-protein thioesterase 1l; PPT1; Tripeptidyl peptidase 1; TPP1
Specimen Type
Whole Blood
Performing Lab
Mayo Medical Laboratory
Epic ID
Other Reference Test
Lab Test Days
Tuesday
Standard TAT
3-9 Days
Collection Information
Specimen Required
5-6 mL Whole Blood
Container Type
Yellow (ACD), Solution A/B
Collection Instructions
Whole blood collected in an EDTA (lavender-top) tube is also acceptable. Reason for testing is required.
Processing Information - Lab Use Only
Transport Temperature
Room Temp-OK/Refrigerate-OK
Specimen Stability
Room Temp: 6 Days; Refrigerated: 6 Days (preferred); Frozen: Unacceptable
Rejection Criteria
Gross hemolysis
Test Volume Required
6 mL Whole Blood
Minimum Test Volume
5 mL Whole Blood
Processing Instructions
Send whole blood specimen in original tube. Do not aliquot. Order in MayoLink and send with Mayo courier Monday-Friday. Reason for testing is required.
Included Tests
PPT1=Palmitoyl-protein thioesterase 1 & TPP1=Tripeptidyl peptidase 1
Comments
This blood test is an appropriate first step for individuals between 0 and 4 years of age who present with symptoms consistent with neuronal ceroid lipofuscinosis. For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Pre-analytical processing is performed Monday through Friday and Sunday. This test may be canceled if specimens are outside of stability when processing occurs. Collect and package specimens for arrival on days when processing is performed.
CPT Codes
82657 (not genetic)
Revised
5/9/26
Initials
IM