Laboratory: Clinical Biochemistry  (SENDOUTS)
Test Name:
CEROID LIPOFUSCINOSIS - (B)
Test Code: MIS8
Clinical Information:
Alternate Names: Batten Disease


Description: 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.

 

About 80% of patients with late infantile NCL and 7% of patients with juvenile onset NCL have a deficiency of the lysosomal enzyme tripeptidyl peptidase 1 (TPP1). Disease is characterized by seizures, ataxia, myoclonus, psychomotor retardation, vision loss and speech impairment.

 

Includes testing for CLN 1 gene (Palmitoyl-protein thioesterase I (PPT) and CLN 2 gene (Tripeptidyl Peptidase I (TPP).  Include both hospital requisition and Seattle Children’s Hospital Biochemical Genetics requisition.


Seattle Children’s Requisition

 

Whole Blood samples must be shipped within 4 hours to HSC.

Alternative: Dried Blood Spot, 2 full circles on a newborn screening card
Collection Devices:
Alternate Device: Blood Spot

Quantity: 2-4

Device Comment: Sample must be spotted for shipping stability
Specimen Required:

Special Processing: Whole blood must be shipped within 4 hours

Specimen Stability: 

Ambient: Whole Blood 24h (Blood Spot 4 weeks)

Refrigerated: 4 C° 24h

Other comments: If whole blood is necessary, Do not spin!  Keep at room temperature.  Transport Mon-Thurs at room temperature via overnight shipping.

 
Referral:
Whole Blood: 6.0 mL
Pediatric Whole Blood: 6.0 mL

3 - 4 circles of dried blood on a newborn screening card

Specimen Type: Whole Blood (DBS)

Adult volume: 6.0 mL (3- 4 Circles)

Pediatric volume: 6.0 mL (3- 4 Circles)

Shipping & Storage: RT

Referred Out Location: 

Department of Laboratories, Children’s Hospital & Regional Medical Center,

4800 Sand Point Way N.E.

Seattle, Washington 98105 

(Ph. 206-987-2102)

XBATT

Other Comments: 

Tripeptidyl Peptidase I Test Code: LAB3521

Palmitoyl protein thioesterase I Test Code: LAB3364

Method: Fluorometric Enzyme assay
Requisition:
Reference Values:
Specimen Type (PPT)Normal Range
WBC20 -150 nmol/hr/mg protein
Blood Spots21 - 200 nmol/hr/spot
Specimen Type (TTP)Normal Range
WBC70- 300 nmol/hr/mg protein
Blood Spots30 - 220 nmol/hr/spot
Availability:
Within 3 Weeks
See Also:
More Information:
If heparinized blood is submitted, spot 3-4 circles on a newborn screening card.  Dry spots and submit for testing. 
XBATT