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 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:
- 81405x1,81406x1, 81479x1
- 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.