Sphingolipidoses
Enhance outcomes with innovative testing
Sphingolipidoses are a group of more than 10 LDs that result from variation in the genes that encode lysosomal enzymes and activator proteins of sphingolipids (SL), a major class of lipids that play a vital role in the cellular lifecycle. Defects in the metabolism of SLs can cause accumulation of SLs and lead to several conditions, which mainly impact the neuronal and immune systems.
While there is no cure for sphingolipidoses and treatment options are limited, therapies such as enzyme replacement therapy and bone marrow transplantation have proven effective at treating specific conditions. Varied in clinical presentation, these disorders require a timely, accurate diagnosis in order to initiate treatment prior to symptom onset and achieve successful outcomes.
Among our offerings for sphingolipidoses are enzyme assays, biomarker testing, and molecular testing to confirm diagnosis, and monitoring assays to assist with disease management. Our unique biochemical urine screening test for lysosomal disorders with integrated interpretation is not available elsewhere. In addition, we offer molecular genetic testing for the disorders presented here, and many others not included in preexisting panels, through our custom gene ordering tool.
Fabry disease
Biochemical testing
- AGABS | Alpha-Galactosidase, Blood Spot
- AGAW | Alpha-Galactosidase, Leukocytes
- AGAS | Alpha-Galactosidase, Serum
- CTSU | Ceramide Trihexosides and Sulfatides, Random, Urine
- LGB3S | Globotriaosylsphingosine, Serum
Molecular testing
Gaucher disease
Biochemical testing
- GBAW | Beta-Glucosidase, Leukocytes
- GPSYW | Glucopsychosine, Blood
- GPSY | Glucopsychosine, Blood Spot
- GPSYP | Glucopsychosine, Plasma
Molecular testing
GM1 Gangliosidosis
Biochemical testing
Krabbe disease
Biochemical testing
- GALCW | Galactocerebrosidase, Leukocytes
- PSY | Psychosine, Blood Spot
- PSYCF | Psychosine, Spinal Fluid
- PSYR | Psychosine, Whole Blood
Molecular testing
Metachromatic leukodystrophy
Biochemical testing
- ARSU | Arylsulfatase A, 24 Hour, Urine
- ARSAW | Arylsulfatase A, Leukocytes
- CTSU | Ceramide Trihexosides and Sulfatides, Random, Urine
Multiple Sulfatase Deficiency
Biochemical testing
- LSDS | Lysosomal Disorders Screen, Random, Urine
- MSDBS | Multiple Sulfatase Deficiency, Blood Spot
- MSDW | Multiple Sulfatase Deficiency, Leukocytes
Tay-Sachs and Sandhoff diseases
Biochemical testing
- NAGW | Hexosaminidase A and Total Hexosaminidase, Leukocytes
- NAGS | Hexosaminidase A and Total Hexosaminidase, Serum
- NAGR | Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood
- Testing begins with an analysis of the hexosaminidase A and total enzyme with reflex to full gene sequencing of either HEXA or HEXB if the enzyme result is suggestive of either carrier or affected status for Tay-Sachs or Sandhoff disease.
- MUGS | Hexosaminidase A, Serum
- OLIGU | Oligosaccharide Screen, Random, Urine
Molecular testing
- HEXAZ | Tay-Sachs Disease, HEXA Gene, Full Gene Analysis, Varies
- HEXBZ | Sandhoff Disease, HEXB Gene, Full Gene Analysis, Varies
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
References
- Gault CR, Obeid LM, Hannun YA. An overview of sphingolipid metabolism: from synthesis to breakdown. Adv Exp Med Biol. 2010;688:1-23. doi:10.1007/978-1-4419-6741-1_1. PMID: 20919643; PMCID: PMC3069696.
- Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA. Gene therapy of sphingolipid metabolic disorders. Int J Mol Sci. 2023 Feb 11;24(4):3627. doi:10.3390/ijms24043627. PMID: 36835039; PMCID: PMC9964151.