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General screening

Comprehensive testing to guide care

For patients who present with coarse facial features, organomegaly, developmental delay, and other findings associated with many lysosomal disorders, general screening is a first step toward pinpointing diagnosis. Our biochemical and molecular general screening panels can identify a broad array of conditions that allow for more targeted testing and follow-up monitoring.

General screening test menu

Lysosomal disorders

Key testing

Biochemical testing

Molecular testing


Neuronal ceroid lipofuscinosis

Biochemical testing


Custom gene ordering

Our custom gene ordering allows the creation of a custom gene list to tailor molecular testing to a patient’s exact need. After selection of the inborn errors of metabolism disease state, the custom gene panel can be modified to add or remove genes. Through this option, single-gene testing or a custom gene panel can be performed.

Key testing

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