Free Diagnostic Carrier Screening for Niemann-Pick Disease Types A & B

The Quinn Madeleine Foundation, an LDN-affiliated patient advocacy group, has partnered with the Golden, Colorado-based diagnostic laboratory company Baby Genes Inc. to provide diagnostic carrier screening at no charge to hundreds of people impacted by acid sphingomyelinase deficiency (ASMD), also known as Niemann-Pick disease types A & B, which are severe lysosomal diseases. Niemann-Pick disease type A (NPA) is always fatal by toddlerhood. Providing free access to this test will enable prospective parents to make the best, most informed decisions in their family planning.

The diagnostic carrier screening program is currently open to any family member of an affected child, though it intends to go further in the future. “The long-term goal is to consider the possibility of an ethnicity pattern, identifying a higher-risk general population, and offering more widespread screening,” says Eileen Linzer, Co-Founder & Executive Director of The Quinn Madeleine Foundation. Family members screened are therefore also asked to complete an optional, self-reported “Ethnicity Survey” to assist in this research.