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Test ID: CTSA    
Ceramide Trihexoside/Sulfatide Accumulation in Urine Sediment, Urine

Secondary ID A test code used for billing and in test definitions created prior to November 2011


NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


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 / Alpha-Galactosidase, Leukocytes and AGAS / 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 / Arylsulfatase A, Leukocytes; ARST / Arylsulfatase A, Fibroblasts; and ARSU / Arylsulfatase A, 24 Hour, Urine.

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

See Fabry Disease Testing Algorithm in Special Instructions.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Thin-Layer Chromatography (TLC)

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Ceramide Trihex/Sulf Accum Ur Sed

Aliases Lists additional common names for a test, as an aid in searching

Alpha-Galactosidase Deficiency
Arylsulfatase A Deficiency
Ceramide Hexosides
Ceramide Trihexosidase
Ceramide Trihexosidase Deficiency
Diffuse Angiokeratoma
Fabry's Disease
Lipid Survey
Metachromatic Leukodystrophy
Urinary Cell Debris
Urine Sediment
Fabry Disease