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HelpTest ID MPSBS Mucopolysaccharidosis, Blood Spot
Useful For
Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI
Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spots
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.
Highlights
Accumulation of undegraded glycosaminoglycans (GAGs) leads to progressive cellular dysfunction and results in the typical clinical features seen with this group of disorders.
Dermatan sulfate (DS), heparan sulfate (HS), and keratan sulfate (KS) are markers for a subset of mucopolysaccharidoses (MPS).
Testing for DS, HS, and KS in dried blood spots can aid in the diagnosis of MPS types I, II, III, IV, and VI.
Method Name
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)
Reporting Name
Mucopolysaccharidosis, BSSpecimen Type
Whole bloodSpecimen Required
Patient Preparation: Do not administer low-molecular-weight heparin prior to collection
Supplies: Card-Blood Spot Collection (Filter Paper) (T493)
Collection Container:
Preferred: Card-Blood Spot Collection (Filter Paper) (T493)
Acceptable: Whatman Protein Saver 903 paper, Ahlstrom 226 filter paper, Munktell filter paper, local newborn screening card, postmortem screening card, or blood collected in tubes containing ACD or EDTA and dried on filter paper
Specimen Volume: 2 dried blood spots
Collection Instructions
1. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).
2. Let blood dry on filter paper at room temperature in a horizontal position for 3 or more hours.
3. Do not expose specimen to heat or direct sunlight.
4. Do not stack wet specimens.
5. Keep specimen dry.
Additional Information:
1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.
2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.
Specimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole blood | Ambient (preferred) | 100 days |
| Frozen | 100 days | |
| Refrigerated | 100 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: ≤1,900 nmol/L
6-10 years: ≤1,750 nmol/L
11-15 years: ≤1,500 nmol/L
>15 years: ≤750 nmol/L
Day(s) and Time(s) Performed
Monday, Wednesday, Friday; 9 a.m.
Performing Laboratory
Mayo Clinic Laboratories in Rochester
Test Classification
This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.CPT Code Information
83864
LOINC Code Information
| Test ID | Test Order Name | Order LOINC Value |
|---|---|---|
| MPSBS | Mucopolysaccharidosis, BS | In Process |
| Result ID | Test Result Name | Result LOINC Value |
|---|---|---|
| 43695 | Interpretation (MPSBS) | 59462-2 |
| 43693 | Dermatan Sulfate | 90233-8 |
| 43694 | Heparan Sulfate | 90235-3 |
| BA2869 | Total Keratan Sulfate | 90236-1 |
| 43696 | Reviewed By | 18771-6 |
Forms
1. Biochemical Genetics Patient Information (T602) in Special Instructions.
2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.
Testing Algorithm
See Newborn Screen Follow-up for Mucopolysaccharidosis Type I in Special Instructions.
For more information, see Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase in Special Instructions.