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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."

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 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 deficiency of arylsulfatase A, results

in 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:  #8785 "Alpha-

Galactosidase, Leukocytes" and #8784 "Alpha-Galactosidase, Serum.

 

Evidence of sulfatide accumulation suggests decreased or deficient

arylsulfatase A activity. Follow-up with the specific enzyme assay is

recommended: #8779 "Arylsulfatase A, Leukocytes ;" #8778 "Arylsulfatase

A, Fibroblasts"; and #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

Burtis C, Ashwood E. In Tietz Textbook of Clinical Chemistry. 3rd

edition. Philadelphia, WB Saunders Company, 1994

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

• Lysosomal Storage Disorders 
• Fabry Disease Testing Algorithm