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Test Code B0013
Test Summary

This test detects alpha-L-iduronidase activity.

Turn-Around-Time (TAT)* 3  days
Acceptable Sample Types
Dried Blood Spots
Whole Blood (EDTA)
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

This test detects alpha-L-iduronidase enzyme activity that has been associated with mucopolysaccharidosis type I.

This test may be appropriate for individuals with a clinical suspicion of mucopolysaccharidosis type I and/or individuals with a family history of mucopolysaccharidosis type I.

Mucopolysaccharidosis type I is a disease associated with the accumulation of complex carbohydrates in various tissues caused by a lysosomal storage disorder. The disease is separated into severe and attenuated forms. The severe form has an age of onset in infancy and the attenuated form has an age of onset in childhood. Both forms show symptoms of a large head, hydrocephalus, distinctive facial features, hepatosplenomegaly, an enlarged tongue, umbilical and inguinal hernias, clouded corneas, hearing loss, weakness in the hands and fingers, and spinal stenosis. The severe form of the disease can also include symptoms of developmental regression, intellectual decline, rapid disease progression, and a life expectancy of late childhood. The attenuated form of the disease can include symptoms of intellectual disability and typically live into adulthood. The incidence of mucopolysaccharidosis type I is estimated to be ~ 1 in 100,000.

Tandem mass spectrometry analysis can be coupled with liquid chromatography, a technique referred to as LC-MS/MS. In this methodology, chromatography is used to separate analytes of interest prior to measurement by the mass spectrometer. This separation reduces interference from matrix components and can also allow for the measurement of analytes that have the same mass (isobaric species), thereby improving analytical specificity compared to MS/MS.

Dried Blood Spots
Collection Container(s):

Dried blood spot card

Collection:

Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
Condition: Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.
Whole Blood (EDTA)
Collection Container(s):

EDTA (purple top)

Collection:

Infants (< 2-years): 2 to 3 mL; Children (>2-years): 3 to 5 mL; Older children and adults: Minimum 5mL. The blood tube should be inverted several times immediately after blood collection to prevent coagulation.

Condition: Store at ambient temperature. Do not refrigerate or freeze.
Shipping: Ship overnight at ambient temperature ensuring receipt within 5-days of collection.
SPECIAL INSTRUCTIONS
Clotted or hemolyzed samples are not accepted.

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