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HelpTest ID TPPTL Tripeptidyl Peptidase 1 and Palmitoyl-Protein Thioesterase 1, Leukocytes
Useful For
Evaluation of patients with clinical presentations suggestive of neuronal ceroid lipofuscinoses (NCL)
Aids in the differential diagnosis of infantile and late infantile NCL
This test is not useful for detecting carrier status of NCL.
Genetics Test Information
This blood test is an appropriate first step for individuals who present between 0 and 4 years of age with symptoms consistent with neuronal ceroid lipofuscinosis.
Special Instructions
Method Name
Fluorometric
Reporting Name
TPP1 and PPT1, WBCSpecimen Type
Whole Blood ACDShipping Instructions
For optimal isolation of leukocytes, it is recommended the specimen arrive refrigerated within 6 days of collection to be stabilized. Collect specimen Monday through Thursday only and not the day before a holiday. Specimen should be collected and packaged as close to shipping time as possible.
Specimen Required
Container/Tube:
Preferred: Yellow top (ACD solution B)
Acceptable: Yellow top (ACD solution A)
Specimen Volume: 6 mL
Collection Instructions: Send specimen in original tube. Do not aliquot.
Specimen Minimum Volume
5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole Blood ACD | Refrigerated (preferred) | 6 days | YELLOW TOP/ACD |
| Ambient | 6 days | YELLOW TOP/ACD |
Reference Values
TRIPEPTIDYL PEPTIDASE 1
85-326 nmol/hour/mg protein
PALMITOYL-PROTEIN THIOESTERASE 1
20-93 nmol/hour/mg protein
Day(s) Performed
Preanalytical processing occurs Monday through Saturday.
Assay performed: Twice per month
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
82657
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| TPPTL | TPP1 and PPT1, WBC | 93704-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 50688 | Specimen | 31208-2 |
| 50689 | Specimen ID | 57723-9 |
| 50690 | Source | 31208-2 |
| 50691 | Order Date | 82785-7 |
| 50692 | Reason for Referral | 42349-1 |
| 50693 | Method | 85069-3 |
| 50694 | TPP1L | 76038-9 |
| 50695 | PPT1L | 74935-8 |
| 50696 | Interpretation | 59462-2 |
| 50697 | Amendment | 48767-8 |
| 50698 | Reviewed By | 18771-6 |
| 50699 | Release Date | 82772-5 |
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.Report Available
8 to 15 daysNY State Approved
YesForms
1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:
-Informed Consent for Genetic Testing (T576)
-Informed Consent for Genetic Testing-Spanish (T826)
2. Biochemical Genetics Patient Information (T602) in Special Instructions
3. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.