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.

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me