Galactosamine-6-Sulfatase Enzyme Analysis
| Test Code | B0015 |
|---|---|
| Test Summary |
This test detects galactosamine-6-sulfatase 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 |
**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.
This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
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Test Description
This test detects galactosamine-6-sulfatase enzyme activity that has been associated with mucopolysaccharidosis type IV.
Indications for Testing
This test may be appropriate for individuals with a clinical suspicion of mucopolysaccharidosis type IV and/or individuals with a family history of mucopolysaccharidosis type IV.
Condition Description
Mucopolysaccharidosis type IV is a disease associated with progressive skeletal disease. Age of onset is typically in early childhood with symptoms of short stature, knock knees, skeletal abnormalities of the ribs, chest, spine, hips, and wrists, hypermobile joints and/or restricted joint movement, underdevelopment of the odontoid process, spinal compression, clouded corneas, hearing loss, sleep apnea, distinct facial features, dental disorders, heart valve abnormalities, hepatomegaly, and umbilical and inguinal hernias. Life expectancy is reduced, with more severe forms causing death in late childhood. The incidence of mucopolysaccharidosis type IV is estimated to be ~ 1 in 200,000.
Test Methods and Limitations
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.
Detailed Sample Requirements
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. |
| 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. |
Dried Blood Spots
| Collection Container(s) | Dried blood spot card |
|---|---|
| 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.
|
| 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. |