Hereditary Angioedema (HAE) Type I-II

Angioedema; episodic non-puritic, non-urticarial, non-pitting edema; laryngeal edema; GI symptoms including pain with visceral edema, nausea, diarrhea and vomiting. Trauma can precipitate or aggravate edema. In Type 1 HAE, C1 esterase inhibitor is quantitatively decreased while in Type II HAE, serum levels of the protein are normal or elevated, but activity is reduced. A third type, HAE III, is associated with mutations in a different gene (F12) that is not included in this test.

Tests Available

Forms and Documents

Test Details

SERPING1 (C1INH)
  • Confirmation of a clinical diagnosis
  • Selection of appropriate prophylaxis and treatment
  • Identification of at-risk family members
  • Prenatal diagnosis
  • Capillary Sequencing
  • Exon Array CGH

Ordering

2341
3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs

Billing

81479x1
Yes
Yes
  • 277.6 Other deficiencies of circulating enzymes, Hereditary angioedema
* For price inquiries please email zebras@genedx.com

References

  1. Kalmár, L. et al., HAEdb: A Novel Interactive, Locus-Specific Mutation Database for the C1 Inhibitor Gene. Hum Mutat. 25: 1-5, 2005.
  2. Kalmár, L. et al., Mutation Screening for the C1 Inhibitor Gene Among Hungarian Patients With Hereditary Angioedema. Hum Mutat. 22:498, 2003.
  3. Bowen, B. et al., A Review of the Reported Defects in the Human C1 Esterase Inhibitor Gene Producing Hereditary Angioedema Including Four New Mutations. Clin Immunol. 98: 157-163, 2001.
  4. Stoppa-Lyonnet et al. Recombinational Biases in the Rearranged C1-Inhibitor Genes of Hereditary Angioedema Patients, Am J Hum Genet 49:1055, 1991.