Test Catalog

Test Id : LSDS

Lysosomal Storage Disorders Screen, Random, Urine

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

Screening patients suspected of having a lysosomal storage disorder

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

This is a general urine screening test for a broad array of lysosomal storage (LSD) and related disorders. Not all LSDs are detectable by this method.

Highlights

The first step in a diagnostic workup of an individual suspected of having a lysosomal storage disorder (LSD) includes urine analyses for metabolites associated with mucopolysaccharidoses, oligosaccharidoses, disorders of sulfatide degradation, and LSDs with characteristic urine profiles.

 

This test contains a combined analysis of ceramide trihexosides, mucopolysaccharides, oligosaccharides, and sulfatides. This combined analysis of these disease-specific markers allows for the identification of disorders that may not be picked up using any of the single tests alone.

Profile Information
A profile is a group of laboratory tests that are ordered and performed together under a single Mayo Test ID. Profile information lists the test performed, inclusive of the test fee, when a profile is ordered and includes reporting names and individual availability.

Test Id Reporting Name Available Separately Always Performed
CTS02 Ceramide Trihex and Sulfatide, U Yes, (Order CTSU) Yes
MPS02 Mucopolysaccharides Quant, U Yes, (Order MPSQU) Yes
OLI02 Oligosaccharide Screen, U Yes, (Order OLIGU) Yes
BG721 Lysosomal Storage Disorders Interp No Yes

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

CTS02, OLI02: Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

MPS02: Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

BG721: Medical Interpretation

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

Lysosomal Storage Disorders Scrn, U

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

Alpha-Fucosidosis

Alpha-Galactosidase Deficiency

Alpha-Mannosidosis

Alpha-N-Acetylgalactosaminidase Deficiency

Arylsulfatase A Deficiency

Arylsulfatase B Deficiency

Aspartylglucosaminuria

Aspartylglycosaminuria

Beta-Galactosidase Deficiency

Beta-Glucuronidase Deficiency

Ceramide Hexosides

Ceramide Trihexosidase

Ceramide Trihexosidase Deficiency

Chondroitin-6-sulfate

Chondroitin-6 sulfate

Dermatan Sulfate

Diffuse Angiokeratoma

Fabry Disease

Fabry's Disease

GAGS (Glycosaminoglycans)

Galactose-6-Sulfatase Deficiency

Galactosialidosis

GB3

GL3

Globotriaosylceramide

Glycosaminoglycans (GAGS)

GM1 gangliosidosis

GM2 gangliosidosis

Heparan Sulfate

Hunter Syndrome

Hurler Syndrome

Hurler-Scheie Syndrome

I-Cell Disease

Iduronate Sulfatase Deficiency

Iduronidase Deficiency

Keratan Sulfate

LSD

Lysosomal Storage

Lysosomal Storage Disease

Maroteaux Lamy Syndrome

Maroteaux-Lamy Syndrome

Metachromatic Leukodystrophy

Morquio A

Morquio B

MPS I

MPS II

MPS III

MPS IVA

MPS IVB

MPS VI

MPS VII

Mucolipidosis II

Mucolipidosis III

Mucopolysaccharides

Mucopolysaccharidosis

Multiple Sulfatase Deficiency

Oligosaccharides

Oligosaccharidosis

Pompe Disease

Pseudo-Hurler Polydystrophy

Sandhoff Disease

Sanfilippo Syndrome

Scheie Syndrome

Schindler Disease

Sialidosis

Sly Syndrome

Sphingolipids

Sulfatides

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

Specimen Type
Describes the specimen type validated for testing

Urine

Ordering Guidance

This test is the recommended screening test for the initial workup of a suspected lysosomal storage disorder (LSD) when the patient's clinical features are not suggestive of any particular LSD.

Necessary Information

1. Patient's age is required.

2. Biochemical Genetics Patient Information (T602, in Special Instructions) 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: Do not administer low-molecular weight heparin prior to collection. Baby wipes or wipes containing soaps and lotions should not be used prior to collection because these may interfere with results.

Supplies: Urine Tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 10 mL

Pediatric Volume: 3 mL

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

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

Forms

Biochemical Genetics Patient Information (T602) in Special Instructions

Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

3 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) 15 days
Frozen 365 days
Ambient 7 days

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

Screening patients suspected of having a lysosomal storage disorder

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

This is a general urine screening test for a broad array of lysosomal storage (LSD) and related disorders. Not all LSDs are detectable by this method.

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

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

Lysosomal storage disorders (LSD) are a diverse group of inherited diseases characterized by the intracellular accumulation of macromolecules leading to cell damage and organ dysfunction. Approximately 50 LSD have been described with a wide phenotypic spectrum and ranging in severity from neonatal lethal to later onset milder variants.

 

Although classification is not always straightforward, LSD are generally categorized according to the type of storage material that accumulates in the cells and tissues. Major categories include mucopolysaccharidoses, oligosaccharidoses, mucolipidoses, and sphingolipidoses. In many cases, accumulating analytes can be detected in urine. Screening for these disorders typically begins with an analysis to detect disease-specific metabolite patterns or profiles indicative of a LSD. The combined analysis of disease-specific markers for LSD in multiple tests can allow for the identification of additional disorders that may not be picked up using any of the single tests alone. 

 

Disorders detectable by this approach include the oligosaccharidoses: alpha-mannosidosis, aspartylglucosaminuria, fucosidosis, Schindler disease, and sialidosis; the sphingolipidoses: GM1 gangliosidosis, Sandhoff disease, galactosialidosis, saposin B deficiency, metachromatic leukodystrophy, multiple sulfatase deficiency, Fabry disease, Gaucher disease, and Krabbe disease; the mucopolysaccharidoses excluding MPS IX (hyaluronidase deficiency); the glycogen storage disorder Pompe disease and the mucolipidoses types II and III. Additionally, other disorders such as congenital disorder of glycosylation (CDG) type IIb, and deglycosylation disorders such as NGLY1-CDG may also be detected.

 

The mucopolysaccharidoses (MPS) are a subset of lysosomal storage disorders caused by the deficiency of any one of the enzymes involved in the stepwise degradation of dermatan sulfate, heparan sulfate, keratan sulfate, or chondroitin sulfate (glycosaminoglycans: GAGs). Undegraded or partially degraded GAGs (also called mucopolysaccharides) are stored in lysosomes and excreted in the urine. Accumulation of GAGs in lysosomes interferes with normal functioning of cells, tissues, and organs resulting in the clinical features observed in MPS disorders. There are 11 known enzyme deficiencies that result in MPS. In addition, abnormal GAG storage is observed in multiple sulfatase deficiency and in I-cell disease. Finally, an abnormal excretion of GAGs in urine is observed occasionally in other disorders including active bone diseases, connective tissue disease, hypothyroidism, urinary dysfunction, and oligosaccharidoses.

 

The oligosaccharidoses (glycoproteinoses) are a subset of lysosomal storage disorders caused by the deficiency of any one of the lysosomal enzymes involved in the degradation of complex oligosaccharide chains. They are characterized by the abnormal accumulation of incompletely degraded oligosaccharides in cells and tissues and the corresponding increase of related free oligosaccharides in the urine. Clinical features can include bone abnormalities, coarse facial features, corneal cloudiness, organomegaly, muscle weakness, hypotonia, developmental delay, and ataxia. Age of onset ranges from early infancy to adult and can even present prenatally.

 

The sphingolipidoses are a subset of lysosomal storage disorders caused by a defect in any one of the enzymes that degrade complex ceramide containing lipids. They are characterized by the excessive accumulation of sphingolipids in the tissues, particularly in the central nervous system resulting in progressive neurodegeneration and developmental regression. In 2 conditions, Fabry disease and Gaucher disease type I, there is only systemic involvement. In many cases, sphingolipidoses can be detected by through oligosaccharide analysis in urine.

 

Because of the similarity of features across disorders and their phenotypic variability, clinical diagnosis of LSD can be challenging; therefore, the combined analysis of multiple urine screening tests is an important tool for the initial workup of an individual suspected of having a lysosomal storage disorder. Abnormal results can be followed up with the appropriate enzyme or molecular analysis.

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

When abnormal results are detected with characteristic patterns, a detailed interpretation is given, including an overview of the results and their significance, a correlation to available clinical information, elements of differential diagnosis, recommendations for additional biochemical testing, and in vitro confirmatory studies (enzyme assay and molecular test).

 

Abnormal results are not sufficient to conclusively establish a diagnosis of a particular disease. Specific enzymatic or molecular assays is recommended to confirm positive results.

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

In rare instances, a 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 in Special Instructions for additional testing recommendations.

 

Not all lysosomal storage disorders are detectable through urine screening.

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

1. Part 16 Lysosomal Disorders. In The Online Metabolic and Molecular Bases of Inherited Disease (OMMBID). Edited by D Valle, S Antonarakis, A Ballabio, et al. Accessed October 14, 2019. Available at https://ommbid.mhmedical.com/book.aspx?bookid=2709#225069419

2. Enns GM, Steiner RD, Cowan TM: Lysosomal disorders. In Pediatric Endocrinology and Inborn Errors of Metabolism. Edited by K Sarafoglou, GF Hoffmann, KS Roth. McGraw Hill Medical, 2009

3. Kingma SDA, Bodamer OA, Wijburg FA: Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004

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

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)

 

Dermatan sulfate (DS), heparin sulfate (HS), keratan sulfate (KS) and chondroitin-6-sulfate (C6S) are enzymatically digested from urine. The reaction mixture is centrifuged and analyzed by liquid chromatography-tandem mass spectrometry (LC-MS/MS). The ratio of the extracted peak area of DS, HS, KS and C6S to internal standard as determined by LC-MS/MS is used to calculate the concentration of DS, HS, KS and C6S in the sample.(Unpublished Mayo method)

 

Oligosaccharides in : urine samples are extracted using Oasis HLB and carbograph columns and lyophilized overnight. Oligosaccharides are permethylated, the tubes centrifuged, and the supernatant removed. The supernatant is quenched with water, neutralized with acetic acid, extracted, eluted, and again lyophilized overnight. Specimens are resuspended, mixed 1:1 with a matrix solution, spotted onto a MALDI plate and allowed to air dry. The plate is then analyzed using a MALDI TOF/TOF 5800 Analyzer.(Xia B, Asif G, Arthur L, et al: Oligosaccharide analysis in urine by MALDI-TOF mass spectrometry for the diagnosis of lysosomal storage diseases. Clin Chem 2013 Sep;59[9]:1357-1368)

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.

Varies

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.

14 to 18 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.

  • Authorized users can sign in to Test Prices for detailed fee information.
  • Clients without access to Test Prices can contact Customer Service 24 hours a day, seven days a week.
  • Prospective clients should contact their Regional Manager. For assistance, contact Customer Service.

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. This test 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

83864

84377

82570

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
LSDS Lysosomal Storage Disorders Scrn, U 94423-1
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.
606773 Lysosomal Storage Disorders Interp 94423-1
606772 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