Test of Biomarker of Fabry Disease (Lyso-GL-3)
| Test Code | LB |
|---|---|
| Test Summary | Detecting Biomarker of Fabry Disease (Lyso-GL-3) by tandem mass spectrometry. |
| Turn Around Time | 7 days |
| Acceptable Sample Types | Dried Blood Spots |
| NY Approved | No |
*TAT starts after the sample and all required sample information is received at the processing laboratory.
**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.
**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.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test Code:
LB
Test Description
This test is used to monitor the levels of globotriaosylsphingosine (Lyso-GL-3) for disease progression and/or treatment response in individuals with Fabry disease.
Indications for Testing
This test may be appropriate for diagnosing and monitoring disease progression and/or treatment response in individuals with Fabry disease.
Condition Description
Fabry disease is a lysosomal storage disorder with a wide spectrum of symptoms ranging from mild cases in females, to severe cases in classically affected hemizygous males. Symptoms may include abdominal and joint pain, vascular lesions and corneal abnormalities. Neurological symptoms include autonomic dysfunction and burning sensation or numbness in the extremities. Fabry disease affects an estimated 1 in 40,000 to 1 in 60,000 males. The prevalence is unknown in females.
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
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. |