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HelpTest Code MPSWB Mucopolysaccharidosis, Blood
Specimen Required
Patient Preparation: Do not administer low-molecular weight heparin prior to collection.
Container/Tube:
Preferred: Lavender top (EDTA)
Acceptable: Yellow top (ACD)
Specimen Volume: 2 mL
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 used as a second-tier newborn screen for mucopolysaccharidosis (MPS) types I and II and to aid in the diagnosis and monitoring of patients with MPS types I, II, III, IV, and VI.
Reporting Name
Mucopolysaccharidosis, BSpecimen Type
Whole bloodSpecimen Minimum Volume
0.5 mL
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| 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
Day(s) Performed
Monday, Wednesday, Friday
Report Available
3 to 5 daysSpecimen Retention Time
Residual whole blood: 7 days; Dried blood spot: 6 monthsPerforming Laboratory
Mayo Clinic Laboratories in Rochester
CPT Code Information
83864
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MPSWB | Mucopolysaccharidosis, B | 94586-5 |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| BA2873 | Interpretation (MPSWB) | 59462-2 |
| BA2870 | Dermatan Sulfate | 90233-8 |
| BA2871 | Heparan Sulfate | 90235-3 |
| BA2872 | Total Keratan Sulfate | 90236-1 |
| BA2874 | Reviewed By | 18771-6 |
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