Niemann-Pick Genetic Carrier Test in Georgia

What this test measures

Niemann-Pick disease refers to a group of inherited conditions that affect the body's ability to break down certain fats inside cells. Types A and B are caused by changes in the SMPD1 gene, which provides instructions for an enzyme called acid sphingomyelinase. When this enzyme is reduced or missing, fatty substances can build up in organs such as the liver, spleen, and lungs. This particular test targets mutations associated with types A and B.

The test uses a blood sample and analyzes the SMPD1 gene for specific mutations. Carrier testing checks for mutations that a person could pass on without having symptoms themselves. Some panels focus on a small set of common mutations, while others sequence more of the gene. The laboratory reports which mutations were found and whether the result indicates carrier status.

Carrier status does not mean a person has the disease. Two carriers of the same condition have a chance of having an affected child with each pregnancy, which is why results are best reviewed with a genetic counselor. The test is most relevant for people with a family history or ancestry groups in which certain mutations are more common. A qualified provider explains the findings and the available options.