Angioedema Testing
Angioedema is characterized by temporary swelling of deeper layers of the skin and mucosal tissues. Episodes often begin suddenly and may last from several hours to several days. Symptoms can be painful, disruptive, and disabling. In rare cases, angioedema can become life-threatening, particularly when swelling affects the tongue, throat, or airway.
Angioedema Biomarker
Virant Diagnostics offers angioedema biomarker testing to support evaluation of patients with suspected bradykinin-mediated angioedema. This testing may be especially helpful for patients with recurrent swelling episodes, a family history of angioedema, and poor response to antihistamines, corticosteroids, or other allergy-directed therapies.
Angioedema Genetics
Virant Diagnostics offers angioedema genetic testing to support clinically directed evaluation of patients with suspected hereditary or recurrent angioedema. This testing may be especially helpful for patients with recurrent swelling episodes and a family history of angioedema.
Comprehensive Angioedema Testing at Virant Diagnostics
Virant Diagnostics provides specialized laboratory testing to support the evaluation of patients with suspected bradykinin-mediated or otherwise unexplained angioedema. Our services include:
- Bradykinin testing
- Plasma kallikrein activity testing (RUO)
- Hereditary angioedema genetic testing
- Advanced laboratory consultation and result interpretation
Individual HAE Gene Testing
HAE with C1 inhibitor deficiency
HAE with normal C1 inhibitor genes
Targeted Testing
HAE with C1 inhibitor deficiency
- Sequencing of the SERPING1 (OMIM 106100) coding region +/- 10 base pairs for exons 2-8
- SERPING1 exons 1-8 duplication/deletion testing
HAE with normal C1 inhibitor genes
- Sequencing of a known mutation variant in an OMIM HAE-related gene:
- F12
- KNG1
- ANGPT1
- PLG
- MYOF
- HS3ST6
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
- Click here for details and descriptions for each gene on this panel
Targeted Testing
- Targeted testing for a SERPING1 coding variant, or variants listed in the nlC1INH table that have been previously identified in a family member
- Clinical confirmation of variants found in a research laboratory
Hereditary Angioedema (HAE) Panels
nlC1INH HAE Panel
HAE Panel
4 Gene HAE Panel I
4 Gene HAE Panel II
nlC1INH HAE Panel
- Sequencing of known variants in 6 OMIM HAE-related genes
- Genes tested:
- F12
- KNG1
- ANGPT1
- PLG
- MYOF
- HS3ST6
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
HAE Panel
- All 7 genes (SERPING1 and nlC1INH genes)
- Sequencing of the SERPING1 (OMIM 106100) coding region +/- 10 base pairs for exons 2-8
- Sequencing of known variants in 6 OMIM HAE-related genes
- Genes tested:
- SERPING1
- F12
- KNG1
- ANGPT1
- PLG
- MYOF
- HS3ST6
- Duplication/deletion testing for SERPING1 gene, exons 1-8
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
4 Gene HAE Panel I
- Genes tested:
- SERPING1
- F12
- KNG1
- ANGPT1
- Duplication/deletion testing for SERPING1 gene, exons 1-8
- Duplication/deletion testing for F12 gene, exons 1-12, except exon 3
4 Gene HAE Panel II
- Genes tested:
- SERPING1
- PLG
- MYOF
- HS3ST6
- Duplication/deletion testing for SERPING1 gene, exons 1-8
Angioedema Panels
Angioedema Panel
Whole Exome Sequencing
Angioedema Panel
- This gene panel sequences and analyzes 77 genes involved with complement, coagulation, and tissue kallikrein pathways
- Click here for details and descriptions for each gene on the panel
Whole Exome Sequencing
- Whole exome sequencing sequences in all protein-coding regions of the genome.
- Analysis reviews all identified variants along with relevant medical history to reveal diseases that a patient may have, develop, and/or pass down
- Must provide clinical information when submitting a sample
- Maternal and paternal samples in addition to proband samples are helpful
Click here for references.
Research & Publications
- Li H, et al. Bradykinin Measurement by Mass-Spectrometry Correlates with Angioedema Attack Frequency In Bradykinin-Mediated Angioedema. Ann Allergy Asthma Immunol. 2023 Nov 131(5), Suppl 1, S30.
- Wu Y, et al. Novel Bradykinin Detection In the Diagnostic Workup Of Patients with Recurrent Angioedema Attacks. J Allergy Clin Immunol 2024 Feb 153(2) Suppl, AB205.
- Yu J. et al. Consistent Detection of Bradykinin In Patients with Normal C—1Inhibitor Hereditary Angioedema. Ann Allergy Asthma Immunol. 2024 Nov 133(6), Suppl 1, S27-28.
- Yu J, et al. Bradykinin Level as A Biomarker for Treatment Efficacy in Hereditary Angioedema Patients. J Allergy Clin Immunol 2025 Feb 155(2) Suppl, AB205.
- Chen J, et al. Bradykinin Measurement by LC-MS/MS in Hereditary Angioedema Subjects Enhanced by Cold Activation. J Allergy Clin Immunol Glob. 2025 June 2;4(3):100505. doi: 10.1016/j.jacig.2025.100505. eCollection 2025 Aug.
- Yu J, et al. Bradykinin Quantification To Diagnose and Monitor Normal-C1 Esterare Inhibitor Angioedema. J Allergy Clin Immunol 2026 Feb 157(2) Suppl, AB30.
- Chen J, et al. Ex Vivo Bradykinin as a Functional Biomarker for Angioedema with Normal C1-inhibitor. J Allergy Clin Immunol Glob. 2026 May 15:5(4):100735. doi: 10.1016/j.jacig.2026.100735. eCollection 2026 Jul.
- Wetherby K, et al. Molecular Diagnosis of Hereditary Angioedema Patients Using a && Gene NGS Panel. J Allergy Clin Immunol. 2023 Feb 151(2) Suppl, AB139.
- Wetherby K, et al. Genetic Modifiers May Predict Disease Severity In Hereditary Angioedema Patients with SERPING1 Mutations. J Allergy Clin Immunol. 2025 Feb 155(2), Suppl, AB202.
- Li H, et al. Indirect treatment comparison of oral sebetralstat and intravenous recombinant human C1 esterase inhibitor for on-demand treatment of hereditary angioedema attacks. Allergy Asthma Clin Immunol. 2025 Mar 15;21(1):10. doi: 10.1186/s13223-025-00955-6. PMID: 40089800; PMCID: PMC11909897.
- Wetherby K, et al. Identification of an Elusive SERPING1 Deletion in a Family with Hereditary Angioedema Type I Utilizing SOFT Clipping. Front Allergy. 2025 April 17;6:1565283. doi: 10.3389/falgy.2025.1565283. eCollection 2025.PMID: 40313637.