Neuronal Ceroid Lipofuscinosis 1 (CLN1) – Enzyme Analysis

Disease name Neuronal Ceroid Lipofuscinosis 1 (CLN1)
Enzyme Name Neuronal Ceroid Lipofuscinosis is caused by a deficiency of palmitoyl-protein thioesterase 1, or PPT1.
Clinical info The neuronal ceroid lipofuscinoses (CLN) are a group of conditions that are inherited in an autosomal recessive pattern. CLN1 is characterized by progressive microcephaly, contractures, developmental delay, psychiatric symptoms, and neurological degeneration including seizures and ataxia. Retinal and macular degeneration leads to blindness by the age of 2 years with diminished or abolished ERG results. Age of onset varies with infantile, late-infantile, juvenile and adult-onset forms of the disease with younger ages of onset typically associated with a more rapid progression of symptoms. The intracellular accumulation of lipopigments results in a characteristic microscopic pattern called granular osmiophilic deposits (GROD).
Indications This test can be used to confirm a suspected neuronal ceroid lipofuscinosis 1 (CLN1) diagnosis. Prenatal diagnosis and carrier testing via enzyme analysis are not available.
Associated Tests

Palmitoyl-protein thioesterase 1 (PPT1) is also part of the Neurological Panel.

Molecular analysis for Neuronal Ceroid Lipofucsinosis 1 (PPT1) is included in the NGS Neuronal Ceroid Lipofuscinosis panel.

Methodology Quantifies level of palmitoyl-protein thioesterase 1 via the 4-methylumbelliferyl 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 sepcimen 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.