Since Niemann-Pick disease type C (including types C1 and C2) is a genetic condition, the gene changes (“mutations”) that cause it can be passed down from one family member to the next. This means that if someone in the family is diagnosed with Niemann-Pick disease type C, other blood relatives have a chance of having one of the same gene changes identified in the affected person. Any blood relative can be tested to see if they have one of the same changes. This is called "carrier testing". The closer related you are to a person with Niemann-Pick disease type C, the higher your chances of being a carrier. For example, this means that the sister of a person with Niemann-Pick disease type C has a greater chance of being a carrier than a cousin. It is important to know that being a carrier for a genetic condition does not mean you will develop the disease. It only means you are at a higher chance for having an affected child if your partner is also a carrier for the same disease.
To find a genetic counselor near you who can discuss carrier testing, visit the National Society of Genetic Counselors Find a Genetic Counselor website.
Other Questions About Niemann-pick type c
- Who else in my family should I test for Niemann-Pick disease type C?
- Which Niemann-Pick disease type C is more common, type C1 or type C2?
- Where do I find other people with Niemann-Pick disease type C?
- When should a doctor suspect that a person has Niemann-Pick disease type C?
- What is the usual abbreviation for Niemann-Pick disease type C?
