F12 Select Exons Sequencing

Forms and Documents

Test Details

F12
  • Confirmation of a clinical diagnosis
  • Selection of appropriate prophylaxis and treatment
  • Identification of at-risk family members
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

388
2-3 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Dried Blood Spots|Buccal Brushes

Billing

81403x1
No
Yes
  • 995.1 Angioneurotic edema, Giant urticaria
* For price inquiries please email zebras@genedx.com

References

  1. 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.
  2. 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.
  3. 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.
  4. 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.