MOLECULAR STUDY HEREDITARY ANGIOEDEMA TYPE 1 AND 2 (SERPING1) SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3876

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
TAT (Days):	35 days
Information:
Hereditary angioedema (HAE) is a genetic disease characterized by the occurrence of transitory and recurrent subcutaneous and/or submucosal edemas resulting in swelling and/or abdominal pain. Onset may occur at any age but is most common during childhood or adolescence. Patients present with white, circumscribed nonpruritic edemas that remain for a period of 48 to 72 hours and recur with variable frequency. The edemas may involve the digestive tract resulting in a clinical picture similar to that seen in intestinal occlusion syndrome, sometimes associated with ascites and hypovolemic shock. Laryngeal edema can be life-threatening with a risk of death of 25% in the absence of appropriate treatment. Edemas of the face are a risk factor for laryngeal involvement. Three types of HAE have been described. HAE types 1 and 2 are caused by anomalies in the SERPING1 gene (11q12-q13-1). Transmission is autosomal dominant and most cases involve heterozygotes. HAE type 3 predominantly involves females, with the use of estrogen-containing oral contraceptives and pregnancy being precipitating factors. Some cases are associated with coagulation factor 12 (Hageman factor; F12; 5q33-qter). Analysis for mutations in the F12 gene may be proposed but are present in only 15% of patients.
Links:
OMIM Entry - #106100 - ANGIOEDEMA, HEREDITARY, TYPE I; HAE1
Orphanet- Hereditary angioedema
OMIM Entry - -606860 - COMPLEMENT COMPONENT 1 INHIBITOR; C1NH

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