Niemann Pick Disease Type C1 and C2


Niemann-Pick Disease type C (NPC) is a rare autosomal recessive neurodegenerative disorder resulting from mutations in one of two genes (NPC1 or NPC2). It is characterised by intracellular accumulation of unesterified cholesterol and glycosphingolipids (in the brain) within the late endosomes-lysosomes. NPC is clinically heterogenous with a broad spectrum of phenotypes and the age of onset ranges from perinatal through to adulthood. Common symptoms include hepatomegaly, splenomegaly, jaundice and vertical supranuclear gaze palsy (VSGP). 95% of NPC patients will have mutations in the NPC1 gene. NPC1 codes for a 1278 amino acid transmembrane glycoprotein that regulates cholesterol transport from the late endosome-lysosomes to other intracellular compartments. 4% of NPC patients will have mutations in NPC2. NPC2  codes for a 151 amino acid soluble ubiquitiously expressed lysosomal glycoprotein involved in lysosomal sterol transport. Most cases of NPC2 present in early infancy with inflammatory lung disease, with subsequent severe neurological disease and death in early childhood. Theoretically NPC2 disease is treatable by bone marrow transplantation (BMT).

Referral information

We accept referrals for mutation scanning to confirm a clinical or biochemical diagnosis. We can also offer carrier testing to family members.

Price & reporting times

Test Price NHS (£) Price non- NHS (£ ) TRT (calendar days)
Mutation scanning POA POA 56
Single mutation test POA POA 28
Urgent/Predictive single mutation test POA POA 14
Prenatal diagnosis POA POA 3

Test validation & quality assurance - information for users

95% of patients with Niemann Pick C diagnosed biochemically have mutations in the NPC1 gene, ~4% have mutations in the NPC2 gene and the remainder biochemically have NPC but no mutations are found.

The laboratory is UKAS assessed against ISO 15189 standards.

Sample requirements

4ml EDTA blood sample

Referral guidelines

Please see our referral guidelines for more information.

OMIM Number(s) - 257220

Gene(s) - NPC1 and NPC2