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Test Code MPS1B Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker, Blood Spot


Ordering Guidance


This test is recommended for assessment of newborns and infants with a positive newborn screen (reduced alpha-L-iduronidase activity) for mucopolysaccharidosis type I (MPS I). This test is not intended to be used as a monitoring test for individuals with confirmed MPS I.

 

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 panel; see MPS1R / Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase])) 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, postmortem screening card, or blood collected in tubes containing ACD or EDTA and dried on filter paper.

Specimen Volume: 2 Blood spots

Collection Instructions:

1. An alternative blood collection option for a 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 the 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)


Secondary ID

622354

Useful For

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type I (MPS I) (decreased alpha-L-iduronidase activity)

 

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

 

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

 

This test is not appropriate for carrier detection.

Testing Algorithm

If the patient has abnormal newborn screening results for mucopolysaccharidosis type I, 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 I.

Method Name

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

Reporting Name

MPS I 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/application Reject

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday, Thursday

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
MPS1B MPS I Biomarker, BS In Process

 

Result ID Test Result Name Result LOINC Value
622355 Interpretation 59462-2
622356 Reviewed by 18771-6