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Test Code LSDS Lysosomal Disorders Screen, Random, Urine

Important Note

CMH Cerner Order: Ref Misc


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).


Children's Mercy Hospital Note:

CMH Collection: 3mL urine in a sterile cup

Specimen Minimum Volume

3.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Refrigerated (preferred) 15 days
  Frozen  90 days

Useful For

Screening patients suspected of having a lysosomal disorder

Reject Due To

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

Day(s) Performed

Varies

Report Available

8 to 14 days

Reporting Name

Lysosomal Disorders Scrn, U

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.

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

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83789

83864

84377

84275

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