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HelpOrder Code MPSWB Mucopolysaccharidosis, Blood
Test Down Notes
Effective July 25, 2025: This test is temporarily unavailable due to analytic issues. The duration is expected to be approximately 4 weeks. Order MPS2B, MPSQU or MPSER. See test notification here attachment.php.
Ordering Guidance
The preferred test to evaluate newborns with a positive newborn screen (reduced alpha-L-iduronidase or iduronate-2-sulfatase activity) for mucopolysaccharidosis type I or mucopolysaccharidosis type II, is MPS1B / Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker, Blood Spot or MPS2B / Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker, Blood Spot, respectively.
Specimen Required
Patient Preparation: For 6 hours before specimen collection, patient should not receive heparin.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
Collection Instructions: Do not collect specimen from a line that may have been used to infuse heparin or has been flushed with heparin.
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
Supporting the biochemical diagnosis of mucopolysaccharidoses type I, II, III, IV, or VI
Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in whole blood specimens
Genetics Test Information
This test is recommended to aid in the diagnosis and monitoring of patients with mucopolysaccharidosis (MPS) types I, II, III, IV, and VI.
Accumulation of undegraded glycosaminoglycans leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.
Dermatan sulfate, heparan sulfate, and keratan sulfate are markers for a subset of mucopolysaccharidoses.
Method Name
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Mucopolysaccharidosis, BSpecimen Type
Whole bloodSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Ambient (preferred) | 7 days |
| Refrigerated | 7 days |
Reject Due To
All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.Reference Values
DERMATAN SULFATE (DS)
Newborn-≤2 weeks: ≤200 nmol/L
>2 weeks: ≤130 nmol/L
HEPARAN SULFATE (HS)
Newborn-≤2 weeks: ≤96 nmol/L
>2 weeks: ≤95 nmol/L
TOTAL KERATAN SULFATE (KS)
≤5 years: ≤1900 nmol/L
6-10 years: ≤1750 nmol/L
11-15 years: ≤1500 nmol/L
>15 years: ≤750 nmol/L
Method Description
Whole blood is spotted on filter paper and dried overnight. Blood spot specimens are eluted and sonicated. Dermatan sulfate (DS), heparin sulfate (HS), and keratan sulfate (KS) are enzymatically digested. 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, and KS to internal standard as determined by LC-MS/MS is used to calculate the concentration of DS, HS, and KS in the sample.(Unpublished Mayo method)
Day(s) Performed
Wednesday, Friday
Performing Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
83864
Testing Algorithm
If the patient has abnormal newborn screening result for mucopolysaccharidosis type I, immediate action should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)
For more information, see the following:
-Newborn Screen Follow-up for Mucopolysaccharidosis Type I
-Newborn Screening Follow up for Mucopolysaccharidosis type II