GeneDx :: Tests :: Niemann-Pick Disease, Types A and B

301-519-2100 • FAX 301-519-2892 • 207 PERRY PARKWAY GAITHERSBURG, MD 20877

Niemann-Pick Disease, Types A and B

NPD-A
NPD-B
SMPD1 gene; Sphingomyelin phosphodiesterase

Niemann-Pick Disease, Types A (neurodegenerative form) and B (visceral form) are rare allelic lipid storage disorders due to mutations in the SMPD1 gene and are characterized by accumulation of sphingomyelin in reticulo-endothelial and other cell types in the body. Using genomic DNA obtained from buccal (cheek) swabs or blood (5mL in EDTA), bi-directional sequence of the entire coding region and splice junctions of the SMPD1 gene (exons 1-6) is obtained and analyzed. For individuals of Ashkenazi-Jewish descent, mutation specific testing for 3 common mutations (R496L, L302P, and c.990delC) is offered as a separate test. The clinical sensitivity of SMPD1 testing is very high. Sequence analysis of the SMPD1 gene is expected to identify disease-causing mutations in approximately 99% of affected individuals with enzymatically confirmed ASM deficiency. Carrier testing and prenatal diagnosis is available once mutation(s) in the family have been defined.

Information Sheet, including prices and CPT codes
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 A; Niemann-Pick, Type B; NPD-B; NPD-A; NPDB; NPDA; SMPD1; SMPD; ASM; Sphingomyelin lipidoses; Sphingomyelinase deficiency; Acid sphingomyelinase deficiency; Sphingomyelin phosphodiesterase; Lipid storage; Lysosomal storage; Lysosome; Neurologic; Liver; Spleen; Hepatomegaly; Splenomegaly; Hepatosplenomegaly; Developmental delay; Hypotonia; Cherry red spots; Jaundice; Neurological degeneration; Rigidity; Fatal; Lethal; Ashkenazi; Jewish; North African