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
- 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
- LSD6W | Lysosomal Storage Disorders, Six-Enzyme Panel, Leukocytes
- MPSBS | Mucopolysaccharidosis, Blood Spot
- MP8BS | Mucopolysaccharidoses, Eight-Enzyme Panel, Blood Spot
- MP9W | Mucopolysaccharidoses, Nine-Enzyme Panel, Leukocytes
- PLSD | Lysosomal and Peroxisomal Disorders Screen, Blood Spot
Molecular testing
Neuronal ceroid lipofuscinosis
Biochemical testing
- NCLBS | Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Blood Spot
- NCLW | Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes
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