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Diagnostic and Genetic Testing

A number of laboratories have recently expanded testing services for a variety of lysosomal storage diseases, including Niemann-Pick disease types A, B and C. This is particularly significant due to the recent discontinuation of some types of biochemical testing for NPA and NPB, especially prenatal testing in the USA.

DNA based testing, also called molecular testing, is now clinically available to look for mutations causing NPA and NPB in affected individuals, and is available in an additional 2 laboratories for NPC for testing of affected individuals. If such testing reveals the mutations that caused the disease in the affected family member, carrier testing for immediate family members and prenatal testing for the parents of the affected individual would also be available.

Costs and time to complete the testing vary depending on the type of testing, the disease and the laboratory doing the testing. Interpretation of test results may be complex and thus involvement of a genetics health care professional (genetic counselor, genetics nurse, MD geneticist) in the testing process is highly recommended.

For more details about the testing or for referral to genetic services contact the NNPDF.