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Test Code MPS1R Endogenous Mucopolysaccharidosis Type I (IDUA [Alpha-L-Iduronidase]) Biomarker Reflex, Blood Spot


Ordering Guidance


This test is recommended for assessment of newborns and infants with a positive newborn screen (reduced IDUA 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.



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)


Genetics Test Information

This test is a second-tier assay for newborns and infants who have abnormal newborn screening results for mucopolysaccharidosis type I (MPS I) with reduced alpha-L-iduronidase activity.

Reflex Tests

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

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.

Day(s) Performed

Monday, Thursday

Report Available

3 to 6 days

Specimen Retention Time

6 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542