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Test Code PPT I Palmitoyl protein thioesterase I

Clinical System Name

Palmitoyl protein thioesterase I

Synonyms

CLN1

PPT

Battens Disease

Neuronal ceroid lipofuscinoses

NCL

Description

Fluorometric enzyme assay for protein palmitoyl thioesterase I (PPT)

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 Room temp

≤24 hr

whole blood Refrigerated

≤24 hr

 

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

 

 

Reference Range

 

Specimen Type Normal Range

WBC

20 - 150 nmol/hr/mg protein
Blood Spots 21-200 nmol/hr/spot

 

Methodology

Method: Fluorometric enzyme assay

Analytical Volume:

Limitations:

CPT Codes

82657

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)

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.