Neuronal Ceroid Lipofuscinosis 2 (CLN2) – Enzyme Analysis

Disease name Neuronal Ceroid Lipofuscinosis 2 (CLN2)
Enzyme Name Neuronal Ceroid Lipofuscinosis is caused by a deficiency of lysosomal tripeptidyl peptidase 1, or TPP1.
Clinical info The neuronal ceroid lipofuscinoses (CLN) are a group of conditions that are inherited in an autosomal recessive pattern. CLN2, also known as late-infantile or LICLN, generally begins with the onset of seizures between the ages of 2 to 4 years. Developmental regression follows including speech and motor problems along with cognitive decline. In addition to specific findings on EEG and evoked potentials, neurological deterioration is evidenced by ataxia and myoclonus. Retinal degeneration leads to progressive vision loss and ultimately, blindness. The lipopigment pattern seen in CLN2 under microscopic evaluation is said to be curvilinear. Death usually occurs by 10-15 years of age.
Indications This test can be used to confirm a suspected neuronal ceroid lipofuscinosis 2 (CLN2) diagnosis. Prenatal diagnosis and carrier testing via enzyme analysis are not available.
Associated Tests

Tripeptidyl peptidase 1 (TPP1) is also part of the Neurological Panel.

Molecular analysis for Neuronal Ceroid Lipofucsinosis 2 (TPP1) is included in the NGS Neuronal Ceroid Lipofuscinosis panel.

Methodology Quantifies level of tripeptidyl peptidase 1 via the Ala-Ala-Phe-7-amido-4-methylcoumarin substrate.
Specimen Requirements Enzyme activity is measured in leukocytes only. Collect 5-10 ml whole blood in a green top (sodium heparin) tube.
Transport Whole blood samples (for leukocyte analysis) should be shipped at room temperature and must arrive at the laboratory within 24 hours of specimen collection.
Turnaround time 14 days
CPT Codes 82657
Cost $200
Contact For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411.