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Niemann-Pick Disease, Type C

  • NPC1
  • NPC2 (HE1, Epididymal Secretory Protein)
Niemann-Pick Disease, Type C (NPC) is a rare lipid storage disorder that is characterized by accumulation of LDL-derived cholesterol in lysosomes, small vesicular compartments inside the cells. This abnormality leads to progressive neurological deterioration, hepatosplenomegaly, jaundice and many other inner organ symptoms and eventually to premature death. Niemann-Pick Type C consists of Type C1 and Type C2, which are similar on a clinical and biochemical level, but fall into distinct complementation groups and are caused by mutations in different genes. We offer mutation analysis of the NPC1 and NPC2 genes as separate tests. Using genomic DNA obtained from buccal (cheek) swabs or blood (5 cc in EDTA), we recommend analysis first of the NPC1 gene by bi-directional sequencing of the coding exons 1-25. It has been estimated that mutations in NPC1 account for more than 90% of Niemann-Pick Disease, Type C cases. If negative, analysis of exons 1-5 of the NPC2/HE1 gene is available. It is expected that complete analysis of the NPC1 and NPC2/HE1 genes together will identify the genetic defect in approximately 94% of patients with the diagnosis of NPC. Primary mutation analysis of NPC2/HE1 is indicated in cases consistent with the minor complementation group. Carrier testing and prenatal diagnosis is available once the mutation(s) in the family have been defined.

Information Sheet, including prices and CPT codes Back to the List
Consent Document  
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options  
Niemann Pick, Nieman Pick, Nimann Pick, Nemann Pick, Neman Pick, Niemann-Pick, Type C1, Niemann-Pick, Type C2, NPC, NPC1, NPC2, HE1, Epididymal Secretory Protein, Lipid storage , Lysosomal storage, Lysosome, Cholesterol, Filipin stain, Neurologic, Liver, Spleen, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Supranuclear gaze, Complementation, Seizure, Ataxia, Spasticity, Dysphagia, Dysphasia, Jaundice, Lung, Hypersensitivit

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