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Test of Hereditary Angioedema

Test code: HA

Test Inquiry

Test code: HA

Test Inquiry

Test of Hereditary Angioedema

Detecting Hereditary Angioedema (HAE) by tandem mass spectrometry.

View test information

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.

Test code: HA

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This test is not available in your region Japan, please select your nearest laboratory to request more information.

Test Inquiry

Test information

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

Test Details Page
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. NBS: Please contact Revvity Omics to request the StepOne^® kit. Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit. For pre-punched DBS: The required minimum is 6 punches
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.

How To Order

Step 1

Choose Your Test

Select the correct test for your patient, and download and fill out the Clinical Genomics test requisition form.

Step 2

Collect Sample

Obtain a sample for testing from the patient using one of the provided Revvity Omics test packs.

Step 3

Send Samples

Send samples and all required forms back to Revvity for processing using pre-paid shipping label.

How can we help you?

We are here to answer your questions.

Revvity Sites Globally

Test of Hereditary Angioedema

Test of Hereditary Angioedema

Test of Hereditary Angioedema

About this test

Specifications

Test information

Test description

Indications for testing

Condition description

Test methods and limitations

Detailed sample requirements

Dried Blood Spots

How To Order

Choose Your Test

Collect Sample

Send Samples

How can we help you?

Revvity Sites Globally

Test of Hereditary Angioedema

Test of Hereditary Angioedema

Test of Hereditary Angioedema

About this test

Specifications

Revvity Sites Globally

Test information

Test description

Indications for testing

Condition description

Test methods and limitations

Detailed sample requirements

Dried Blood Spots

How To Order

Choose Your Test

Collect Sample

Send Samples

1. Build Your Custom Panel

2. Complete and print the test requisition

3. Collect and Send Patient Sample

How can we help you?