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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 spot 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.
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: Blood Spot Collection Card
Acceptable: Whatman Protein Saver 903 paper, PerkinElmer 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 Blood spots
Collection Instructions
1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.
2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).
3. Let blood dry on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.
4. Do not expose specimen to heat or direct sunlight.
5. Do not stack wet specimens.
6. Keep specimen dry.
Additional Information:
1. For collection instructions, see Blood Spot Collection Instructions
2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)
3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)
Specimen Minimum Volume
See Specimen Required
Specimen Stability Information
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Whole blood | Ambient (preferred) | 100 days | FILTER PAPER |
| Frozen | 100 days | FILTER PAPER | |
| Refrigerated | 100 days | FILTER PAPER |
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) Performed
Monday, Wednesday, Friday
Report Available
3 to 5 daysPerforming 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. 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 |
|---|---|---|
| MPSBS | Mucopolysaccharidosis, BS | 94586-5 |
| 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 |
NY State Approved
YesForms
1. Biochemical Genetics Patient Information (T602)
2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.
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