Neurological (Sphingolipidoses) Enzyme Panel
Neuronal Ceroid Lipofuscinosis 1
Palmitoyl-protein thioesterase 1
|Clinical info||Lysosomal storage disorders are a broad group of diseases composed of a variety of sub-groups of disorders, such as the mucopolysaccharidoses, the glycoproteinoses, and the sphingolipidoses. A lysosomal storage disease can present in a number of different ways. Infants or children may have growth failure, developmental regression, corneal or lens clouding, hepato- and/or splenomegaly, coarsening facial features and skeletal abnormalities. Some disorders are more likely to have a neurological presentation or present in adults. While a diverse group, different storage diseases may have similar clinical features, thus it may be necessary to measure a number of different enzyme activities prior to finding the one deficient in a particular patient.|
|Indications||Enzyme testing may be ordered as follow-up to abnormal urine screening or as a first tier testing. Enzyme analysis and demonstrating deficient activity is considered the gold-standard in diagnosing lysosomal storage disorders.
Prenatal diagnosis and carrier testing via enzyme analysis are NOT available.
|Associated Tests||These enzyme tests can also be ordered on an individual basis.|
|Specimen Requirements||Whole blood is required for this test. 7-10 ml of blood should be collected in a sodium heparin (green top) tube.|
|Transport||Enzyme samples must arrive within 24 hours of blood draw. Ship overnight at room temperature. Specimens should be sent at ambient temperature. Do not freeze or allow the sample to get above room temperature during shipment.|
|Turnaround time||14 days|
|CPT Codes||82657 for single enzyme
82657(x3) for panel
|Cost||$200 for single enzyme
$600 for panel