Mayo Clinic Laboratories > Genetics > Inborn errors of metabolism > Lysosomal metabolism and storage disorders > General screening

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 screening Lysosomal disorders screening
Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis
Custom gene ordering Custom gene ordering

Lysosomal disorders

Key testing

  • LSDS | Lysosomal Storage Disorders Screen, Random, Urine
    • Testing involves a combined analysis and an integrated interpretation of ceramide trihexosides and sulfatides, mucopolysaccharides, oligosaccharides, and sialic acid. These test components can also be ordered individually.

Individual tests to LSDS components or LSDS individual components

Biochemical testing

Molecular testing

Learn more Lysosomal Storage Disorders Diagnostic Algorithm, Part 1
Learn more Lysosomal Storage Disorders Diagnostic Algorithm, Part 2
Learn more Lysosomal Storage Disorders Screen Interpretive Algorithm

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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