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Unit Code 81979:
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 or determining

carrier status for 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),

Fabry disease, or determining carrier status for Fabry disease.

 

Evidence of ceramide trihexoside accumulation suggests decreased

or deficient alpha-galactosidase activity. Follow-up testing with the

specific enzyme assay is recommended:  #8785 "Alpha-

Galactosidase, Leukocytes" and #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:  #8779 "Arylsulfatase A, Leukocytes"; #8778

"Arylsulfatase A, Fibroblasts"; and #8777 "Arylsulfatase A, Urine."

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)
See "Fabry Disease Testing Algorithm" in
Special Instructions.

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

Ceramide Trihex/Sulf Accum Ur Sed

Ordering Mnemonic An alternate Mayo code (to the Unit Code) for a test

CTSA

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

Cerebrosides

Diffuse Angiokeratoma

Fabry's Disease

GB3

GL3

Globotriaosylceramide

Lipid Survey

Metachromatic Leukodystrophy

Soft-CTSA

Urinary Cell Debris

Urine Sediment