This test detects arylsulfatase B activity.
Test Code | B0016 |
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Test Summary |
This test detects arylsulfatase B activity. |
Turn Around Time | 3 days |
Acceptable Sample Types | Dried Blood Spots , Whole Blood (EDTA) |
Acceptable Billing Types | Institutional Billing , Self (patient) Payment |
NY Approved | No |
This test detects arylsulfatase B enzyme activity that has been associated mucopolysaccharidosis type VI (MPS VI).
This test may be appropriate for individuals with a clinical suspicion of mucopolysaccharidosis type VI and/or individuals with a family history of mucopolysaccharidosis type VI.
Mucopolysaccharidosis type VI is a disease associated with enlarged, inflamed, and scarred tissues and organs. The age of onset is typically in early childhood and symptoms usually 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, and recurrent ear infections. Life expectancy is reduced, and in severe forms death occurs in late childhood. The incidence of mucopolysaccharidosis type VI 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.
Collection Container(s) |
EDTA (purple top) |
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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. |
Sample Condition |
Store at ambient temperature. Do not refrigerate or freeze. |
Shipping |
Ship overnight at ambient temperature ensuring receipt within 5-days of collection. |
SPECIAL SAMPLE INSTRUCTIONS |
Clotted or hemolyzed samples are not accepted. |
Collection Container(s) |
Dried blood spot card |
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Collection |
Follow kit instructions. Briefly, allow blood to saturate the card until indicated areas are filled and blood has soaked through the card. Air dry the card at ambient temperature for at least 3 hours.
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Sample 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. |
Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.
Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.
Send samples and all required forms back to Revvity for processing using pre-paid shipping label.
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