In observance of the holidays, GeneDx will be closed for business on Thursday, December 25, 2014 and on Thursday, January 1, 2015. We will be unable to receive and process specimens. FedEx and UPS will also not be in operation. Except for the aforementioned dates, GeneDx will operate on our normal schedule (Monday-Saturday), including December 24th and December 31st. If you have any questions or inquiries, please call us at 301-519-2100 or email us at firstname.lastname@example.org.
JPS Del/Dup Analysis
FORMS AND DOCUMENTS
- BMPR1A, SMAD4
- Clinical Utility:
- Confirmation of a clinical diagnosis
- Differentiation of JPS from other hereditary hamartomatous polyposis syndromes (PTEN-related disorders, Gorlin syndrome)
- Identification of family members at-risk for juvenile polyposis
- To determine an appropriate surveillance and treatment protocol
- Prenatal diagnosis in families with a known mutation
- Lab Method:
- Exon Array CGH
- Test Code:
- Turnaround Time:
- 3-4 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 84311x1, 88271x10, 88291x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 448.0: Hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease
- 211.3: Colon Appendix Cecum Ileocecal valve Large intestine NOS Excludes: benign carcinoid tumors of the large intestine (209.50-209.56) rectosigmoid junction (211.4)
- Aretz et al., (2007) J Med Genet 44:702-709.
- Gallione et al., (2010) Am J Med Genet Part A 152A:333-339.
- Howe et al., (1998) Science 280:1086-1088.
- Van Hattem et al., (2008) Gut 57:623-627.