Test ID: CTSA
Ceramide Trihexoside/Sulfatide Accumulation in Urine Sediment, Urine
Useful For 
Suggests clinical disorders or settings where the test may be helpful
As an aid in identifying patients with Fabry disease
As an aid in identifying patients with metachromatic leukodystrophy
Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request
Identifying patients with metachromatic leukodystrophy (MLD) or Fabry disease.
Evidence of ceramide trihexoside accumulation suggests decreased or deficient alpha-galactosidase activity. Follow-up testing with the specific enzyme assay is recommended: AGA/8785 Alpha-Galactosidase, Leukocytes and AGAS/8784 Alpha-Galactosidase, Serum.
Evidence of sulfatide accumulation suggests decreased or deficient arylsulfatase A activity. Follow-up testing with the specific enzyme assay is recommended: ARSAW/8779 Arylsulfatase A, Leukocytes; ARST/8778 Arylsulfatase A, Fibroblasts; and ARSU/8777 Arylsulfatase A, Urine.
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Fabry disease, an X-linked recessive lysosomal storage disorder caused by a deficiency of alpha-galactosidase, results in an accumulation of ceramide trihexoside in cells and increased excretion in the urine.
Metachromatic leukodystrophy, an autosomal recessive lysosomal storage disease caused by a deficiency of arylsulfatase A, results in the accumulation of sulfatides in cells and increased excretion in the urine.
See Fabry Disease Testing Algorithm and Lysosomal Storage Disorders in Special Instructions.
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
No evidence of ceramide trihexoside/sulfatide accumulation
Interpretation Provides information to assist in interpretation of the test results
No evidence of ceramide trihexosides or sulfatide accumulation suggests normal enzyme activities.
Evidence of ceramide trihexoside accumulation suggests decreased or deficient alpha-galactosidase activity. Follow-up testing with the specific enzyme assay is recommended: AGA/8785 Alpha-Galactosidase, Leukocytes; AGABS/89407 Alpha-Galactosidase, Blood Spot; and AGAS/8784 Alpha-Galactosidase, Serum.
Evidence of sulfatide accumulation suggests decreased or deficient arylsulfatase A activity. Follow-up with the specific enzyme assay is recommended: ARSAW/8779 Arylsulfatase A, Leukocytes, ARST/8778 Arylsulfatase A, Fibroblasts; and ARSU/8777 Arylsulfatase A, Urine.
See Fabry Disease Testing Algorithm in Special Instructions.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Specific enzymatic assays should be used to confirm positive results.
Clinical Reference Provides recommendations for further in-depth reading of a clinical nature
1. von Figura K, Gieselmann V, Jaeken J: Metachromatic leukodystrophy. In Scriver’s The Online Metabolic and Molecular Basis of Inherited Disease (OMBBID). Edited by D Valle, et al, McGraw-Hill Companies, Inc.
2. Eng CM, Ioannou YA, Desnick RJ: Alpha-galactosidase A deficiency: Fabry disease. In Scriver’s The Online Metabolic and Molecular Basis of Inherited Disease (OMBBID). Edited by D Valle, et al, McGraw-Hill Companies, Inc.
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