Test Code LSDS Lysosomal Disorders Screen, Random, Urine
Ordering Guidance
This test is the recommended screening test for the initial workup of a suspected lysosomal disorder (LD) when the patient's clinical features are not suggestive of any specific LD.
Necessary Information
1. Patient's age is required.
2. 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:
1. Do not administer low-molecular weight heparin before specimen collection.
2. Baby wipes or wipes containing soaps or lotions should not be used before specimen collection because these may interfere with results.
Supplies: Urine Container, 60 mL (T313)
Container/Tube: Clean, plastic urine container with no metal cap or glued insert
Specimen Volume: 12 mL
Pediatric Volume: 3.5 mL
Collection Instructions: Collect a random urine specimen (early morning preferred).
Forms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
Useful For
Screening patients suspected of having a lysosomal disorder
Profile Information
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 |
SAU02 | Sialic Acid, Free and Total, U | Yes, (Order SAU) | Yes |
BG721 | Lysosomal Disorders Interpretation | No | Yes |
Testing Algorithm
For information see:
-Lysosomal Disorders Diagnostic Algorithm, Part 1
Special Instructions
Method Name
CTS02, OLI02: Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry (MALDI-TOF MS)
MPS02, SAU02: Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
BG721: Medical Interpretation
Reporting Name
Lysosomal Disorders Scrn, USpecimen Type
UrineSpecimen Minimum Volume
3.5 mL
Specimen Stability Information
Specimen Type | Temperature | Time | Special Container |
---|---|---|---|
Urine | Refrigerated (preferred) | 15 days | |
Frozen | 90 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
DERMATAN SULFATE:
≤1.00 mg/mmol creatinine
HEPARAN SULFATE:
≤4 years: ≤0.50 mg/mmol creatinine
≥5 years: ≤0.25 mg/mmol creatinine
CHONDROITIN-6 SULFATE:
≤24 months: ≤10.00 mg/mmol creatinine
25 months-10 years: ≤2.50 mg/mmol creatinine
≥11 years: ≤1.50 mg/mmol creatinine
KERATAN SULFATE:
≤12 months: ≤2.00 mg/mmol creatinine
13-24 months: ≤1.50 mg/mmol creatinine
25 months-4 years: ≤1.00 mg/mmol creatinine
5-18 years: ≤0.50 mg/mmol creatinine
≥19 years: ≤0.30 mg/mmol creatinine
FREE SIALIC Acid:
≤4 weeks: ≤208 mmol/mol creatinine
5 weeks-12 months: ≤104 mmol/mol creatinine
13 months-18 years: ≤100 mmol/mol creatinine
≥19 years: ≤38 mmol/mol creatinine
TOTAL SIALIC ACID:
≤4 weeks: ≤852 mmol/mol creatinine
5 weeks-12 months: ≤656 mmol/mol creatinine
13 months-18 years: ≤335 mmol/mol creatinine
≥19 years: ≤262 mmol/mol creatinine
TOTAL/FREE RATIO:
≤4 weeks: 1.94-18.68
5 weeks-12 months: 2.34-13.85
13 months-18 years: 2.63-9.18
≥19 years: 3.35-15.81
CERAMIDE TRIHEXOSIDES:
Negative
SULFATIDES:
Negative
OLIGOSACCHARIDES:
Negative
An interpretive report will be provided.
Day(s) Performed
Varies
Report Available
8 to 14 daysPerforming Laboratory

Test Classification
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
83789
83864
84377
84275
LOINC Code Information
Test ID | Test Order Name | Order LOINC Value |
---|---|---|
LSDS | Lysosomal Disorders Scrn, U | 105125-9 |
Result ID | Test Result Name | Result LOINC Value |
---|---|---|
621077 | Dermatan Sulfate | 94692-1 |
621078 | Heparan Sulfate | 94693-9 |
621079 | Chondroitin-6 Sulfate | 94690-5 |
621080 | Keratan Sulfate | 92806-9 |
621074 | Free Sialic Acid | In Process |
621075 | Total Sialic Acid | In Process |
621076 | Total/Free Sialic Acid Ratio | In Process |
621081 | Ceramide Trihexosides | 34680-9 |
621082 | Sulfatides | 34646-0 |
621083 | Oligosaccharides | 49284-3 |
606773 | Lysosomal Disorders Interpretation | 94423-1 |
606772 | Reviewed By | 18771-6 |