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Order Code 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.

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

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

Method Description

Whole blood is spotted on filter paper and dried overnight. Blood spot specimens are eluted and sonicated. Dermatan sulfate (DS), heparin sulfate (HS), and keratan sulfate (KS) are enzymatically digested. The reaction mixture is centrifuged and analyzed by liquid chromatography tandem mass spectrometry (LC-MS/MS). The ratio of the extracted peak area of DS, HS, and KS to internal standard as determined by LC-MS/MS is used to calculate the concentration of DS, HS, and KS in the sample.(Unpublished Mayo method)

Day(s) Performed

Wednesday, Friday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83864

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