In observance of Thanksgiving, GeneDx will be closed and will not accept specimens on Thursday, November 26, 2015. We will accept specimens but operate on a modified schedule on Friday, November 27, 2015. We will resume our normal schedule on Saturday, November 28, 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
- Alternative Specimen:
- Oral Rinse (30-40 mL)
- CPT Codes:
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy * For ICD9 to ICD10 conversion please follow this link https://www.aapc.com/icd-10/codes/
- ICD-9 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.