SMPD1 Sequencing (Niemann-Pick disease)

Test Background

Niemann-Pick disease, a lysosomal storage disease, is an autosomal recessive condition caused by sphingomyelin phosphodiesterase (acid sphingomyelinase) deficiency resulting in progressive accumulation of sphingomyelin in the lysosomes. Niemann-Pick disease represents a continuous clinical spectrum: Niemann-Pick type A (NPA) typically manifests during infancy with progressive involvement of the central nervous system (CNS) and other organs associated with early death. Specific symptoms include persistent early jaundice, hepatosplenomegaly, growth retardation, developmental delay/intellectual disability, muscular hypotonia, rigidity, cherry red spots, corneal opacities, and discoloration of the anterior lens capsule. There is a higher prevalence of Niemann-Pick type A in the Ashkenazi Jewish population. Type B (NPB) is of later onset and mainly affects visceral organs and lungs with individuals typically surviving into adulthood.  Niemann Pick type B occurs mostly in Turkish, Arabic, and northern African populations. This laboratory performs Sanger sequencing of the SMPD1 gene.

Gene(s): 

SMPD1

About Claritas

Claritas Genomics serves children affected with complex genetic disorders by providing timely and accurate results, resolving families’ long search for answers. By combining clinical expertise of the world’s best pediatric specialists with innovative platform solutions, Claritas is working to improve patient care and enable new discoveries. We are committed to the highest quality and accessibility of information and our interpretive services and unique approach to reporting set the standard for reliably and clearly communicating genetic information.

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