In observance of the holiday, GeneDx will be closed for business on Thursday, November 27, 2014, and will be unable to receive and process specimens. FedEx and UPS will also not operate. We will accept specimens on Friday, November 28, and will resume our normal work schedule on Saturday, November 29, 2014. If you have any questions or inquiries, please call us at 301-519-2100 or email us at email@example.com.
JPS Tier 1
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:
- Capillary Sequencing|Exon Array CGH
- Test Code:
- Turnaround Time:
- 6-7 weeks
- Preferred Specimen:
- 2-5 mL Blood - Lavender Top Tube
- CPT Codes:
- 81405x1, 88271x21, 88291x1, 84311x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Billing Policy
- ICD Codes:
- 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)
- 448.0: Hereditary hemorrhagic telangiectasia Rendu-Osler-Weber disease
- Howe et al., (1998) Science 280:1086-1088.
- Van Hattem et al., (2008) Gut 57:623-627.
- Aretz et al., (2007) J Med Genet 44:702-709.
- Gallione et al., (2010) Am J Med Genet Part A 152A:333-339.