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Test Code B0026
Test Summary

This test detects β-glucuronidase 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 β-glucuronidase enzyme activity that has been associated mucopolysaccharidosis type VII (MPS VII).

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

Mucopolysaccharidosis type VII is a disease associated with abnormal accumulation of complex carbohydrates in various tissues caused by a lysosomal storage disorder. Age of onset is variable with most individuals showing symptoms by early childhood. Symptoms typically include a large head, hydrocephalus, distinctive facial features, a large tongue, heart valve abnormalities, hepatosplenomegaly, umbilical or inguinal hernias, short stature, contractures, spinal stenosis, weakness of the hands and fingers, clouded corneas, sleep apnea, hearing loss, recurrent ear infections, developmental delay and progressive intellectual disabilities. Hydrops fetalis can occur during pregnancy and is typically lethal in the neonate period. Life expectancy is reduced, and in severe forms death occurs in late childhood. The incidence of mucopolysaccharidosis type VII is estimated to be ~1 in 250,000.

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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