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Test Id : CTSU

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Ceramide Trihexosides and Sulfatides, Random, Urine

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Overview

Test Catalog

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

Many patients with Fabry disease excrete ceramide trihexosides in their urine. Patients with either metachromatic leukodystrophy or multiple sulfatase deficiency excrete sulfatides. While patients with saposin B deficiency and some patients with mucolipidosis II (I-cell disease) excrete both ceramide trihexosides and sulfatides.

 

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

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

For information see:

-Fabry Disease Diagnostic Testing Algorithm

 

If the patient has abnormal newborn screening results for Fabry disease. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)

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

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

For information see:

-Fabry Disease Diagnostic Testing Algorithm

 

If the patient has abnormal newborn screening results for Fabry disease. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)

Specimen Type
Describes the specimen type validated for testing

Urine

Necessary Information

Biochemical Genetics Patient Information (T602) is recommended. This information aids in providing a more thorough interpretation of results. Send information with specimen.

Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Patient Preparation: Baby wipes or wipes containing soaps and lotions should not be used prior to urine collection because these may interfere with results.

Supplies: Sarstedt Aliquot Tube, 5 mL (T914)

Container/Tube: Plastic, 5-mL urine tube

Specimen Volume: 2 mL

Collection Instructions: Collect a first-morning, random urine specimen.

Specimen Stability Information: Refrigerated (preferred) 45 days/Ambient 45 days/Frozen 19 months

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

Forms

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.

0.5 mL

Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected

  All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen Type Temperature Time Special Container
Urine Refrigerated (preferred) 45 days
Ambient 45 days
Frozen

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

Many patients with Fabry disease excrete ceramide trihexosides in their urine. Patients with either metachromatic leukodystrophy or multiple sulfatase deficiency excrete sulfatides. While patients with saposin B deficiency and some patients with mucolipidosis II (I-cell disease) excrete both ceramide trihexosides and sulfatides.

 

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

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

For information see:

-Fabry Disease Diagnostic Testing Algorithm

 

If the patient has abnormal newborn screening results for Fabry disease. Refer to the appropriate ACMG Newborn Screening ACT Sheet.(1)

Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test

Urinary excretion of ceramide trihexosides (CT) can be suggestive of Fabry disease, while excretion of sulfatide with or without CT can be suggestive of metachromatic leukodystrophy, multiple sulfatase deficiency, mucolipidosis II (I-cell disease), or saposin B deficiency.

 

Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (alpha-Gal A). Affected individuals accumulate glycosphingolipids in the lysosomes throughout the body, particularly in the kidney, heart, and brain. Severity and onset of symptoms are dependent on the amount of residual enzyme activity. Symptoms may include acroparesthesias (pain crises), multiple angiokeratomas, reduced or absent sweating, corneal opacity, renal insufficiency leading to kidney failure, and cardiac and cerebrovascular disease. There are renal and cardiac variant forms of Fabry disease that may be underdiagnosed. Female patients who are carriers of Fabry disease can have clinical presentations ranging from asymptomatic to severely affected, and they may have alpha-Gal A activity in the normal range. Regardless of the severity of symptoms, individuals with Fabry disease may show an increased excretion of CT in urine.

 

Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disorder most frequently caused by a deficiency of the arylsulfatase A enzyme. Various sulfatides accumulate in the brain, nervous system, and visceral organs, including the kidney and gallbladder and are excreted in the urine. Based on age of onset, the 3 clinical forms of MLD are late-infantile, juvenile, and adult, with late-infantile being the most common. All result in progressive neurologic changes and leukodystrophy demonstrated on magnetic resonance imaging. Symptoms may include hypotonia, clumsiness, diminished reflexes, slurred speech, behavioral problems, and personality changes. Individuals with MLD show an increased urinary excretion of sulfatides without CT.

 

Saposin B deficiency is a rare condition with clinical features that mimic MLD; however, individuals with saposin B deficiency have normal arylsulfatase A activity. Individuals with saposin B deficiency typically have an increased urinary excretion of both sulfatides and CT.

 

Low arylsulfatase A activity has been found in some clinically normal parents and other relatives of MLD patients. Individuals with this "pseudodeficiency" have been recognized with increasing frequency among patients with other apparently unrelated neurologic conditions as well as among the general population. This has been associated with a fairly common alteration in the arylsulfatase A gene (ARSA), which leads to low expression of the enzyme (5%-20% of normal). These individuals do not have metachromatic deposits in peripheral nerve tissues, and their urine sulfatides content is normal.

 

Multiple sulfatase deficiency (MSD) is a rare autosomal recessive disorder caused by a defect in SUMF1, which is required for post-translational activation of the family of 17 sulfatase enzymes, including arylsulfatase A and B. The clinical features of MSD include those of late-infantile MLD, dysmorphic features similar to the mucopolysaccharidoses, and ichthyosis as seen in steroid sulfatase deficiency. Individuals with MSD typically have an increased urinary excretion of sulfatides as well as increased urinary glycosaminoglycans (MPSQU / Mucopolysaccharides Quantitative, Random, Urine).

 

Mucolipidosis II, also known as I-cell disease, is a rare autosomal recessive disorder with features of both mucopolysaccharidoses and sphingolipidoses. I-cell disease is a progressive disorder characterized by congenital or early infantile manifestations including coarse facial features, short stature, skeletal anomalies, cardio- and hepatomegaly, and developmental delays. Individuals with I-cell disease have abnormal oligosaccharide profiles (OLIGU / Oligosaccharide Screen, Random, Urine) and may show an increased urinary excretion of both CT and sulfatides.

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.

An interpretive report will be provided.

Interpretation
Provides information to assist in interpretation of the test results

The pattern of ceramide trihexosides or sulfatide excretion will be described. A normal pattern of excretion suggests absence of these diseases (see Cautions).

 

Evidence of ceramide trihexoside accumulation suggests decreased or deficient alpha-galactosidase activity, see Fabry Disease Testing Algorithm.

 

Evidence of sulfatide accumulation suggests decreased or deficient arylsulfatase A activity. Follow-up with the specific enzyme assay is recommended:

-ARSAW / Arylsulfatase A, Leukocytes

-ARSU / Arylsulfatase A, 24 Hour, Urine

To exclude multiple sulfatase deficiency (MSD), determination of iduronate-2-sulfatase activity is recommended.

-I2SWB / Iduronate-2-Sulfatase, Leukocytes

-I2SB / Iduronate-2-Sulfatase, Blood Spot

 

Evidence of both ceramide trihexoside and sulfatide accumulation suggests a diagnosis of mucolipidosis II (I-cell disease) or saposin B deficiency. Follow-up testing to rule-out I-cell disease may include molecular analysis of the GNPTAB gene or measurement of serum hydrolases (NAGS / Hexosaminidase A and Total Hexosaminidase, Serum).

 

Molecular genetic testing is required to confirm saposin B deficiency.

 

For more information see Lysosomal Storage Disorders Diagnostic Algorithm, Part 2.

Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances

Specific enzymatic or molecular assays should be used to confirm positive results.

 

In some instances, normal excretion of ceramide trihexosides may be seen in individuals who are carriers of or affected with Fabry disease. If Fabry disease is clinically suspected, see Fabry Disease Testing Algorithm for additional testing recommendations.

Clinical Reference
Recommendations for in-depth reading of a clinical nature

1. ACMG Newborn Screening ACT Sheets. Accessed October 30, 2023. Available at www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx?hkey=9d6bce5a-182e-42a6-84a5-b2d88240c508

2. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed November 29, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225546984

3. Kuchar L, Ledvinova J, Hrebicek M, et al. Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. Am J Med Genet A. 2009;149A(4):613-621

4. Mehta A, Hughes DA. Fabry disease. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2002. Updated March 9, 2023. Accessed November 29, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1292/

5. Schlotawa L, Ennemann EC, Radhakrishnan K, et al. SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency. Eur J Hum Genet. 2011;19(3):253-261

6. Gieselmann V, Ingeborg K. Metachromatic leukodystrophy. In: Valle DL, Antonarakis S, Ballabio A, Beaudet AL, Mitchell GA. eds. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw Hill; 2019. Accessed November 29, 2023. Available at https://ommbid.mhmedical.com/content.aspx?bookid=2709&sectionid=225546629

7. Leroy JG, Cathey SS, Friez MJ. GNPTAB-related disorders. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2008. Updated August 29, 2019. Accessed November 29, 2023. Available at www.ncbi.nlm.nih.gov/books/NBK1828/

Method Description
Describes how the test is performed and provides a method-specific reference

Ceramide trihexosides and sulfatides are determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) analysis. Urine specimens are centrifuged and all but 50 mcL of supernatant is discarded from the pellet. Methanol including internal standards is added, and then ceramide trihexosides and sulfatides are extracted in chloroform. After centrifugation, the bottom chloroform later is spotted onto a MALDI plate, matrix is added and allowed to air dry. The plate is then analyzed using a MALDI TOF/TOF 5800 Analyzer.(Unpublished Mayo method)

PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information

No

Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.

Monday

Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.

8 to 15 days

Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded

1 month

Performing Laboratory Location
Indicates the location of the laboratory that performs the test

Rochester

Fees :
Several factors determine the fee charged to perform a test. Contact your U.S. or International Regional Manager for information about establishing a fee schedule or to learn more about resources to optimize test selection.

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Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.

CPT codes are provided by the performing laboratory.

83789

LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.

Test Id Test Order Name Order LOINC Value
CTSU Ceramide Trihex and Sulfatide, U 59462-2
Result Id Test Result Name Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
606148 Interpretation 59462-2
606149 Reviewed By 18771-6

Test Setup Resources

Setup Files
Test setup information contains test file definition details to support order and result interfacing between Mayo Clinic Laboratories and your Laboratory Information System.

Excel | Pdf

Sample Reports
Normal and Abnormal sample reports are provided as references for report appearance.

Normal Reports | Abnormal Reports

SI Sample Reports
International System (SI) of Unit reports are provided for a limited number of tests. These reports are intended for international account use and are only available through MayoLINK accounts that have been defined to receive them.

SI Normal Reports | SI Abnormal Reports