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.
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
- Alternative Specimen:
- Oral Rinse (30-40 mL)
- CPT Codes:
- 81405x1,81406x1, 81479x1
- 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:
- 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.