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

Ordering

2341
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

Billing

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

*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

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.