Niemann-pick types a/b
Diagnosis and Testing
How can I get tested to see if I am a carrier for Niemann-Pick disease (SMPD1-associated)?
If someone in your family has Niemann-Pick disease (SMPD1-associated), you may consider testing to see if you are a carrier for the genetic changes/mutations in the SMPD1 gene that have been identified in the family. Carrier testing must be done by genetic testing. Enzyme function testing cannot be used to see if someone is a carrier.
To find a genetic counselor near you who can discuss carrier testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.