Ordering Guidance

This test is designed to detect disease-causing variants in the F12, KNG1, and PLG genes and to be utilized for genetic confirmation of a clinical diagnosis of hereditary angioedema with normal C1 inhibitor (HAE with normal C1INH) or factor XII deficiency.

Genetic testing for HAE with normal C1INH should only be considered if there is a documented family history of angioedema that does not respond to chronic, high-dose antihistamine therapy, normal complement studies, normal C1-INH level and function, and no exposure to medications that could cause angioedema, such as angiotensin-converting enzyme inhibitors or nonsteroidal anti-inflammatory drugs.

Genetic testing for factor XII deficiency should only be considered if clinical and family history, initial coagulation screens, or initial activity tests indicate a diagnosis.

This test does not measure complement 4, C1INH antigen, C1INH functional, or factor XII activity levels.

-For assessment of C4, order C4 / Complement C4, Serum.

-For assessment of C1INH antigen, order C1ES / C1 Esterase Inhibitor Antigen, Serum.

-For assessment of functional C1INH , order C1INF / C1 Esterase Inhibitor, Functional, Serum.

-For assessment of factor XII activity, order F_12 / Coagulation Factor XII Activity Assay, Plasma.

Customization of this panel and single gene analysis for any gene present on this panel are available. For more information see CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies.

Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. See FMTT / Familial Variant, Targeted Testing, Varies. To obtain more information about this testing option, call 800-533-1710.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Necessary Information

Rare Coagulation Disorder Patient Information is required. Testing may proceed without the patient information, however, the information aids in providing a more thorough interpretation. Ordering providers are strongly encouraged to fill out the form and send with the specimen.

Specimen Required

Specimen Type: Whole blood

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4 days/Refrigerated