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26216 Lysosomal Storage Disorders Screen, Random, Urine (LSDS)

Lysosomal Storage Disorders Screen, Random, Urine (LSDS)
Test Code: LSDSMSO
Synonyms/Keywords

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​

Test Components

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.

Useful For

​Screening patients suspected of having a lysosomal storage disorder

Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Urine​Sterile Urine Container​10 mL​3 mL
Collection Processing Instructions

Patient's age is required.  ​

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.

Collect a first-morning, random urine specimen. 

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

Specimen Stability Information
Specimen TypeTemperatureTime
​Urine ​ ​​Refrigerated (preferred)​15 days
​Frozen​365 days
​Ambient​7 days
Rejection Criteria
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability. 
Interference

​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.

Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Varies​14 to 18 days

​CTS02, OLIO2:  Matrix-Assisted Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

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

BG721:  Medical Interpretation

Reference Lab
Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​An interpretive report will be provided.
Interpretation

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.

Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​83789​1
​83864​1
​84377​1
​82570​1
Synonyms/Keywords

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​

Test Components

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.

Ordering Applications
Ordering ApplicationDescription
​COM​Lysosomal Storage Screen, R, U
​Cerner​Lysosomal Stor Scrn, U (LSDS)
​Centricity​Lysosomal Stor Scrn, U (LSDS)
If the ordering application you are looking for is not listed, contact your local laboratory for assistance.
Specimen Requirements
Specimen TypePreferred Container/TubeAcceptable Container/TubeSpecimen VolumeSpecimen Minimum Volume
(allows for 1 repeat)
Pediatric Minimum Volume
(no repeat)
​Urine​Sterile Urine Container​10 mL​3 mL
Collection Processing

Patient's age is required.  ​

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.

Collect a first-morning, random urine specimen. 

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

Specimen Stability Information
Specimen TypeTemperatureTime
​Urine ​ ​​Refrigerated (preferred)​15 days
​Frozen​365 days
​Ambient​7 days
Rejection Criteria
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability. 
Interference

​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.

Useful For

​Screening patients suspected of having a lysosomal storage disorder

Test Components

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.

Reference Range Information
Performing LocationReference Range
​Mayo Clinic Laboratories​An interpretive report will be provided.
Interpretation

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.

For more information visit:
Performing Laboratory Information
Performing LocationDay(s) Test PerformedReport AvailableMethodology/Instrumentation
​Mayo Clinic Laboratories​Varies​14 to 18 days

​CTS02, OLIO2:  Matrix-Assisted Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)

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

BG721:  Medical Interpretation

Reference Lab
For billing questions, see Contacts
Outreach CPTs
CPTModifier
(if needed)
QuantityDescriptionComments
​83789​1
​83864​1
​84377​1
​82570​1
For most current information refer to the Marshfield Laboratory online reference manual.