In observance of Labor Day, GeneDx will be closed and will not accept specimens on Monday, September 7, 2015. We will resume our normal schedule on Tuesday, September 8, 2015. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
SERPING1 (C1INH) Del/Dup
FORMS AND DOCUMENTS
- SERPING1 (C1INH)
- Clinical Utility:
- Confirmation of a clinical diagnosis
- Selection of appropriate prophylaxis and treatment
- Identification of at-risk family members
- Prenatal diagnosis
- Lab Method:
- Exon Array CGH
- Test Code:
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 277.6: Other deficiencies of circulating enzymes, Hereditary angioedema
- Kalmár, L. et al., HAEdb: A Novel Interactive, Locus-Specific Mutation Database for the C1 Inhibitor Gene. Hum Mutat. 25: 1-5, 2005.
- Kalmár, L. et al., Mutation Screening for the C1 Inhibitor Gene Among Hungarian Patients With Hereditary Angioedema. Hum Mutat. 22:498, 2003.
- 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.
- Stoppa-Lyonnet et al. Recombinational Biases in the Rearranged C1-Inhibitor Genes of Hereditary Angioedema Patients, Am J Hum Genet 49:1055, 1991.