Neuronal Ceroid Lipofuscinosis Type 1 (PPT1) Sequencing

Disorders Neuronal Ceroid Lipofuscinosis Type 1
Gene Name 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 Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis.
Associated Tests Enzyme testing for Palmitoyl-protein thioesterase is available individually or as part of the Neurological Panel.

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

Specimen Requirements 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml
Transport The specimen should be kept at room temperature and delivered via overnight shipping.  FedEx is preferred.  If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature.  Do not freeze the specimen.  Samples collected on Friday can be safely designated for Monday delivery.
Turnaround time 3 weeks
Prenatal testing Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen.
CPT Codes Unknown mutation: 81479

Known mutation: 81403

Deletion/Duplication Analysis: 81479
Cost $800 for sequencing

$350 for known mutation

$700 for deletion/duplication analysis

$1000 for prenatal known mutation
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.