Test of Hereditary Angioedema
| Test Code | HA |
|---|---|
| Test Summary | Detecting Hereditary Angioedema (HAE) 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:
HA
Test Description
C1-INH function, C1-INH protein, and C4 are used as biomarkers to diagnose HAE Type 1 or 2. DBS testing provides a quick and easy-to-use method to aid diagnosis of patients suspected of having HAE.
Indications for Testing
Suspicion of HAE-1/2 is further suspected when patients report any or all of the following: (1) a positive family history (although this may not be present in up to 25% of patients), (2) onset of symptoms in childhood/adolescence, (3) recurrent and painful abdominal symptoms, (4) occurrence of upper airway edema, (5) failure to respond to antihistamines, glucocorticoids, omalizumab or epinephrine, (6) presence of prodromal signs or symptoms before swellings and (7) the absence of wheals. Suspicion of HAE-1/2 should prompt laboratory investigations to support the diagnosis of HAE-1/2.
Condition Description
Hereditary angioedema (HAE) is an autosomal dominant disease caused by either a lack of C1-inhibitor protein or dysfunctional C1-inhibitor protein. HAE manifests with symptoms related to angioedema of the upper airway, skin, and/ or gastrointestinal tract. The most feared complication is upper airway swelling that can proceed to asphyxiation.
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. |