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Hereditary angioedema
Types I/II
SERPING1 (C1INH) (C1-esterase inhibitor)
This autosomal dominant disorder is characterized by episodes of local subcutaneous and submucosal edema involving the upper respiratory and gastrointestinal tracts. The disorder is due to deficiency or abnormal function of the C1 esterase inhibitor caused by mutations in the SERPING1 (C1INH) gene.
Germline mutations in SERPING1 have been found in nearly all patients with the clinical findings of hereditary angioedema and deficient levels or activity of C1 esterase inhibitor. About 82% of patients have mutations that are identifiable by sequencing while ~17% have gross duplications or deletions. Both strategies are employed in this test. For details see the linked Information Sheet below:
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
Type III
F12 (Coagulation factor XII, Hageman factor)
Hereditary angioedema type III is characterized primarily by skin swellings (predominantly facial) and abdominal attacks. Additional symptoms that may occur are tongue swellings, laryngeal edemas and swellings of the soft palate. Affected individuals are predominantly women, though men can be affected, typically at a later age of onset and with less frequency and severity of attacks. Features that distinguish HAE type III from types I and II include: presence of normal C1 inhibitor activity levels, average later age of onset (typically in the 2nd decade of life), predominance of facial swelling as compared to swellings of the extremities and sex bias. In an early study, approximately 25% of individuals with a clinical diagnosis of HAE type III had a mutation in the F12 gene at codon Thr328, which corresponds to amino acid Thr309 in the mature processed protein.
Using genomic DNA obtained from the submitted biological material, bi-directional sequence of exon 9 of the F12 gene is obtained using 2 independent sets of primers and analyzed for any mutation of codon 328. For more details see the linked Information Sheet below:
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
C1NH, C1INH, Esterase, esterase deficiency, angioedema, angioneurotic , edema, HAE, C1 esterase inhibitor
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