Sign in →

Order Code MPS2B Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker, 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.

 

Quantitative values of the glycosaminoglycans, dermatan and heparan sulfate, are not provided with this assay. If quantitative values are desired, order MPSBS / Mucopolysaccharides, Blood Spot.

 

This test is also available as a part of a reflex panel; see MPS2R / Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot.



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)


Useful For

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase)

 

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.

Genetics Test Information

This test is a second-tier assay for newborns and infants who have abnormal newborn screening results for mucopolysaccharidosis type II (MPS II) with reduced iduronate-2-sulfatase activity.

Testing Algorithm

If the patient has abnormal newborn screening results for mucopolysaccharidosis type II (MPS II), timely action should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)

 

For more information see Newborn Screen Follow-up for Mucopolysaccharidosis Type II.

Method Name

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

Reporting Name

MPS II Biomarker, 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

Reference Values

An interpretive report will be provided.

Method Description

Sample preparation consists of extraction from dried blood spots using aqueous buffer and the addition of reagents to aid in removing the analytes from the filter paper. The resulting extracted analytes are chemically derived to aid in chromatographic separation and to increase signal intensity. A liquid/liquid extraction is preformed to remove the derived analytes from bulk matrix. The sample is then analyzed via liquid chromatography tandem mass spectrometry.(Unpublished Mayo method)

Day(s) Performed

Mondays, Thursdays

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542