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Test Code NCLW Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes


Ordering Guidance


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.



Shipping 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.



Necessary Information


1. Patient's age is required.

2. Reason for testing is required.



Specimen Required


Container/Tube:

Preferred: Yellow top (ACD solution B)

Acceptable: Yellow top (ACD solution A) or lavender top (EDTA)

Specimen Volume: 6 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.


Specimen Type

Whole Blood ACD

Specimen Minimum Volume

5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood ACD Refrigerated (preferred) 6 days
  Ambient  6 days

Reject Due To

Gross hemolysis Reject

Reference Values

Palmitoyl-protein thioesterase 1: >10.0 nmol/h/mg protein

Tripeptidyl peptidase 1: >20.0 nmol/h/mg protein

 

An interpretative report will be provided.

Day(s) Performed

Preanalytical processing: Monday through Saturday

Testing performed: Tuesday

Report Available

8 to 15 days

Specimen Retention Time

WBC homogenate: 1 month

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82657