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Hereditary Angioedema (HAE) Type III
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 […]
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. Factors that can influence the onset and frequency of angioedemic attacks include trauma and increased estrogen levels. Nearly 60% of women experienced onset of symptoms after initiation of oral contraceptives or during the first pregnancy :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.
F12 Select Exons Sequencing
FORMS AND DOCUMENTS
- Clinical Utility:
- Confirmation of a clinical diagnosis
- Selection of appropriate prophylaxis and treatment
- Identification of at-risk family members
- Prenatal diagnosis in at-risk pregnancies
- Lab Method:
- Capillary Sequencing
- Test Code:
- Turnaround Time:
- 2-3 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 995.1: Angioneurotic edema, Giant urticaria
- Bork K. et al., Hereditary angioedema caused by missense mutations in the factor XII g ene: Clinical features, trigger factors, and therapy. J Allergy Clin Immunol. 2009 Jul;124(1):129-34.
- Cichon S. et al., Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. Am J Hum Genet. 2006 Dec;79(6):1098-104.
- Dewald G. and Bork K., Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9.
- Martin L. et al., Hereditary angioedema with normal C1 inhibitor gene in a family with affected women and men is associated with the p.Thr328Lys mutation in the F12 gene. J Allergy Clin Immunol. 2007 Oct;120(4):975-7.