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Test ID 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

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 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 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 days

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. 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

NY State Approved

Yes

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