2 doctors weighed in:

How do you know if a carrier of niemann-pick disease?

2 doctors weighed in
Dr. Michelle Zetoony
Internal Medicine - Sleep Medicine
1 doctor agrees

In brief: Genetic testing

There are genetic tests that are available.
If it is a strong concern as a female, you can see genetic counselor before becoming pregnant or if are pregnant. In a male, you can get tested. The testing is not standard because it is rare condition. Be careful about insurance problems if you are tested and come up positive as it now is a flag even though you have no chance of getting the disorder.

In brief: Genetic testing

There are genetic tests that are available.
If it is a strong concern as a female, you can see genetic counselor before becoming pregnant or if are pregnant. In a male, you can get tested. The testing is not standard because it is rare condition. Be careful about insurance problems if you are tested and come up positive as it now is a flag even though you have no chance of getting the disorder.
Dr. Michelle Zetoony
Dr. Michelle Zetoony
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