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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.


Children's Mercy Hospital Note:

CMH COLLECTION: 2 mL in EDTA lavender vacutainer

Specimen Minimum Volume

0.5 mL

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Ambient (preferred) 7 days
  Refrigerated  7 days

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

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

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Day(s) Performed

Wednesday, Friday

Report Available

3 to 7 days

Reporting Name

Mucopolysaccharidosis, B

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 Name

Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83864