TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: CTSU    
Ceramide Trihexosides and Sulfatides, Random, Urine

Useful For Suggests clinical disorders or settings where the test may be helpful

Identifying patients with Fabry disease

 

Identifying patients with metachromatic leukodystrophy

 

Identifying patients with saposin B deficiency

 

Identifying patients with multiple sulfatase deficiency

 

Identifying patients with mucolipidosis II (I-cell disease)

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test measures urinary excretion of ceramide trihexosides and sulfatides.

 

Many patients with Fabry disease excrete ceramide trihexosides in their urine.

 

Patients with either metachromatic leukodystrophy or multiple sulfatase deficiency excrete sulfatides in their urine.

 

Patients with saposin B deficiency and some patients with mucolipidosis II (I-cell disease) excrete both ceramide trihexosides and sulfatides in their urine.

 

Specific enzyme or molecular analysis should be performed to confirm a positive result of this test.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

Special Instructions Library of PDFs including pertinent information and forms related to the test

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

Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Ceramide Trihex and Sulfatide, U

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

Alpha-Galactosidase Deficiency
Arylsulfatase A Deficiency
Ceramide Hexosides
Ceramide Trihexosidase
Cerebrosides
Diffuse Angiokeratoma
Fabry Disease
Fabry's Disease
GB3
GL3
Globotriaosylceramide
I-Cell Disease
Metachromatic Leukodystrophy
Multiple sulfatase deficiency (MSD)
Saposin B deficiency (SapB)
Sphingolipids
Sulfatides