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Test Code MPSWB Mucopolysaccharidosis, Blood


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.

Reporting Name

Mucopolysaccharidosis, B

Specimen Type

Whole blood

Specimen 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

Day(s) Performed

Wednesday, Friday

Report Available

3 to 7 days

Specimen Retention Time

Residual whole blood: 7 days; Dried blood spot: 6 months

Performing 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