Sign in →

Order Code CTSU Ceramide Trihexosides and Sulfatides, Random, 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


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


Useful For

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

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

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

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

Reporting Name

Ceramide Trihex and Sulfatide, U

Specimen Type

Urine

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

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

Reject Due To

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

Reference Values

An interpretive report will be provided.

Method Description

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)

Day(s) Performed

Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83789