Whole Blood (preferred sample type): 1 FULL vacutainer with ACD A or B, EDTA, or Heparin (ACD is preferred but not required)
Buccal Swabs: Collect two foam-tipped swabs prior to food or drink, or after thoroughly rinsing mouth with water.
[Preferred Swab: Puritan cat. no. 25-1506 1PF available from Andwin Scientific at 951.674.5646 for distribution information.]
Buccal Swab: Collect 2 buccal swabs from inside of cheek prior to food or drink. If not possible, rinse mouth thoroughly with water prior to swabbing.Collect buccal swab samples by brushing the inside surface of 1 cheek with moderate pressure, approximately 20 times. Repeat this process with a second swab on the opposite cheek. Clearly label the sterile swab sleeve with collection date, the patient's first and last name, and patient ID number or birth date. Return swabs to sterile packaging, seal with tape.
Minimum volume: 1mL whole blood or 2 buccal swabs
Whole Blood: Send blood Priority Overnight via FedEx and in a well insulated container on an ice pack.
Buccal Swabs: Place swabs in sterile packaging, seal with tape, and ship samples in a padded envelope at room temperatures.
Hereditary angioedema (HAE) due to missense mutations in Factor XII of the complement system have been described by Bork, K et al. (Biochemical and biophysical research communications 2006 343: 1286-1289). This form of HAE has been termed HAE Type III. HAE Type III occurs primarily in women and differs from angioedema due to normal levels of C1-inhibitor. The primary variant that has been described in patients with HAE Type III is a change from the amino acid Threonine to Lysine at position 309 (T309K). A second variant at the same location has also been described, specifically Threonine to Arginine at position 309 (T309R). The Factor XII SNP sequencing assay detects both nucleotide variants (rs118204456 ) resulting in the amino acid changes described above by Bork, K et al.
Informed Consent is required prior to completing any of the following tests. Consent must be obtained by the provider and maintained in the patient medical record. Download and print an informed consent form here.
Twice a month
PCR followed by DNA Sequencing
Within 14 days from when specimen is received in the laboratory.
Molecular Diagnostics Lab
Factor twelve;HEREDITARY ANGIOEDEMA TYPE III;FXIISA