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HelpTest Code LAB3364 Palmitoyl protein thioesterase I
Clinical System Name
Palmitoyl protein thioesterase I
Synonyms
CLN1
PPT
Battens Disease
Neuronal ceroid lipofuscinoses
NCL
PPT I
Sample Requirements
Specimen: Whole Blood
Container(s): Yellow/ACD A or B, Dark Green/Sodium Heparin Tube
Preferred Vol:10.0 mL
Minimum Vol: 6.0 mL
Note: Sample must be processed within 24 hours.
Also acceptable: Dried blood spots; 2 full circles on a newborn screening card or cultured cells from skin fibroblasts (2 confluent T-25 flasks).
Processing Instructions
Reject due to:
Spin: N
Aliquot:N
Temp:RT
Storage location: Biochemical Genetics Box- RT
Weekend Processing: Contact Chem West (x72565) on dayshift. If Chemistry team is unavailable, sample should be stored in RT Biochemical Genetics box.
Off-site collection: Do not spin! Keep at room temperature. Transport Mon-Thurs at room temperature via overnight shipping.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| whole blood | RT |
24 h |
| whole blood | 2-8 C |
24 h |
Contact Biochemical Genetics Laboratory for specimens received outside of stability.
Availability
| STAT | Performed | TAT |
|---|---|---|
| N | Weekly | 7-10 days |
Contact the Biochemical Genetics Lab for requests outside of stated availability (206)987-2216.
Performing Laboratory
Seattle Children's Laboratory
Department
Department: Biochemical Genetics
Phone Number: 206-987-2216
CPT Codes
82657
Methodology
Method: Fluorometric enzyme assay
Analytical Volume:
Limitations:
Reference Range
| Specimen Type | Normal Range |
|
WBC |
20 - 150 nmol/hr/mg protein |
| Blood Spots | 21-200 nmol/hr/spot |
Special Instructions
Links to:
Consent Forms
Algorithms
Requisition
Biochemical Genetics Requisition
On the requisition include clinical information needed for appropriate interpretation. (Age, gender, drug therapy and family history)
Description
Fluorometric enzyme assay for protein palmitoyl thioesterase I (PPT)
Clinical Utility
The neuronal ceroid lipofuscinoses (NCL) comprise a group of recessively inherited neurodegenerative disorders involved in lysosomal protein catabolism. Clinically, they are characterized by vision loss, seizures, mental regression, behavioral changes, and movement disorders. All (100%) patients with classic infantile onset NCL, 8% of patients with late infantile NCL, and 21% of patients with juvenile NCL have a deficiency of PPT.