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, or postmortem screening card.

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)