Abstract
This review provides a summary of current approaches to Niemann-Pick disease type C (NP-C) dia-g--nostics with an emphasis on novel laboratory techniques. NP-C is a severe autosomal recessive neurovisceral disorder and the recent availability of disease-modifying therapies increases the importance of its timely dia-gnosis.
The hereditary deficiency of cholesterol transporter proteins (NPC1 or NPC2) in NP-C leads to abnormal intracellular lipid trafficking. Clinical suspicion for NP-C has to be confirmed by bio-chemical and/or molecular genetic methods.
Novel bio-markers in serum or plasma and advanced sequencing techniques now have a prominent role in NP-C dia-gnostics. In a subset of patients, it is necessary to use several complementary techniques for confirmation of NP-C dia-gnosis, including advanced bio-chemical and cellular assays discussed in the paper.
These methods therefore have to be available in a specialized laboratory.