Test 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
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
Special Instructions
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 | Special Container |
---|---|---|---|
Whole blood | Ambient (preferred) | 7 days | |
Refrigerated | 7 days |
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 daysPerforming Laboratory
Mayo Clinic Laboratories in RochesterTest 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
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 |