Niemann-pick types a/b
Diagnosis and Testing
How do I get tested for Niemann-Pick disease (SMPD1-associated)?
Testing for Niemann-Pick disease (SMPD1-associated) is either genetic testing or testing to look at the activity of the enzyme acid sphingomyelinase. Genetic testing looks at the genetic code of the SMPD1 gene to see if there are two changes/mutations in the gene. Enzyme testing looks to see how much functioning acid sphingomyelinase there is in the patient's body. If there is less than 10% function in this enzyme, the diagnosis can be made.