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Test ID MPSWB Mucopolysaccharidosis, Blood


Specimen Required


Patient Preparation: Do not administer low-molecular weight heparin prior to collection

Collection Container:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 2 mL


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.

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

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 (GAG) 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, 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

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) and Time(s) Performed

Samples received Monday through Saturday; 4 p.m.; Sunday 1 p.m. will be spotted same day. Testing performed Tuesdays, Friday; 7 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
MPSWB Mucopolysaccharidosis, B In Process

 

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

NY State Approved

Yes

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.