Lab Information Manual

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:

Preferred Device:	1 - Na Heparin 4mL, NO GEL Tube(s) - Full Tube Collection Na Heparin 4mL, NO GEL Tube(s) - Full Tube Collection Manufacturer: Becton Dikinson & Company Catalogue #: 367871
Alternate Device:	1 - ACD Solution A - 8.5 mL Tube(s) - Full Tube Collection ACD Solution A - 8.5 mL Tube(s) - Full Tube Collection Manufacturer: Becton Dickinson Catalogue #: 364606

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
WBC	20 -150 nmol/hr/mg protein
Blood Spots	21 - 200 nmol/hr/spot
Specimen Type (TTP)	Normal Range
WBC	70- 300 nmol/hr/mg protein
Blood Spots	30 - 220 nmol/hr/spot

Availability:

Within 3 Weeks