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Test Code MPS2R Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot


Ordering Guidance


This test is recommended for assessment of newborns and infants with a positive newborn screen for mucopolysaccharidosis type II (MPS II). This test is not intended to be used as a monitoring test for individuals with confirmed MPS II.



Shipping Instructions


Specimens stored at ambient temperatures for more than 13 days after collection may result in false-positive results in carrier and other unaffected individuals.



Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Blood Spot Collection Card

Acceptable: Whatman Protein Saver 903 paper, PerkinElmer 226 filter paper, Munktell filter paper, local newborn screening card, or postmortem screening card.

Specimen Volume: 2 Blood spots

Collection Instructions

1. An alternative blood collection option for patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.

2. Completely fill at least 2 circles on filter paper card (approximately 100 microliters blood per circle).

3. Let blood dry on filter paper at ambient temperature in a horizontal position for a minimum of 3 hours.

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions

2. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777)

3. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800)


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

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in the presence of elevated endogenous MPS II biomarkers

 

Follow-up testing for evaluation of an abnormal newborn screening result for MPS II.

 

This test is not useful a monitoring test for individuals with MPS II.

 

This test is not appropriate for carrier detection.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
MPSBS Mucopolysaccharidosis, BS Yes No

Method Name

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

Reporting Name

MPS II Biomarker Reflex, BS

Specimen Type

Whole blood

Specimen Minimum Volume

1 Blood spot

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Refrigerated (preferred) 30 days FILTER PAPER
  Frozen  90 days FILTER PAPER
  Ambient  13 days FILTER PAPER

Reject Due To

Blood spot specimen that shows serum rings or has multiple layers/applications Reject

Day(s) Performed

Mondays, Thursdays

Report Available

3 to 6 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

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPS2R MPS II Biomarker Reflex, BS In Process

 

Result ID Test Result Name Result LOINC Value
622364 Interpretation 59462-2
622365 Reviewed by 18771-6