Does this test cover all types of Niemann-Pick disease?

No. This SMPD1 analysis relates to acid sphingomyelinase deficiency (ASMD), historically types A and B. Niemann-Pick Type C is a separate cholesterol-trafficking disorder caused by NPC1 or NPC2 gene variants, so this is not the test for Type C.

Does a carrier result mean I have Niemann-Pick disease?

No. Carrier status is not a personal disease. Carriers are typically healthy. A genetic counselor can explain what a carrier result means for family planning.

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Genetic and Carrier Screening

Niemann-Pick Disease Mutation Analysis

A blood test that looks for SMPD1 gene variants linked to Niemann-Pick disease types A and B, used for carrier and diagnostic purposes.