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Alpha-Galactosidase A Enzyme Analysis
| Test Code | B0007 |
|---|---|
| Test Summary |
This test detects alpha-galactosidase A 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 | Yes |
| Self (patient) Price | $108.90 |
| Institutional Price | $108.90 |
| CPT Codes** | 83789(x1) |
**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.
Test Description
This test evaluates the activity of alpha-galactosidase A enzyme that has been associated with Fabry disease.
Indications for Testing
This test may be appropriate for individuals with a clinical suspicion of Fabry disease and/or individuals with a family history of 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
Flow injection analysis tandem mass spectrometry (FIA/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. |
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. |