Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

In observance of Independence Day, GeneDx will be closed on Friday, July 3rd, and Saturday, July 4th. Nevertheless, all specimens arriving on Friday, July 3rd will be accepted, accessioned and processed. We will not accept specimens on Saturday, July 4th. We will resume our normal Monday through Saturday schedule on Monday, July 6, 2015. Please also note that FedEx works on a modified schedule on Friday, July 3rd and FedEx and UPS are closed on Saturday, July 4th. If you have any questions or inquiries, please call us at 301-519-2100 or email us at zebras@genedx.com.

JPS Tier 2

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BMPR1A
Disorders:
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

ORDERING

Test Code:
537
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube
Alternative Specimen:
Oral Rinse (30-40 mL), Dried Blood Spots

BILLING

CPT Codes:
81479x1
New York Approved:
No
ABN Required:
Yes
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
* For price inquiries please email zebras@genedx.com

REFERENCES

  1. Aretz et al., (2007) J Med Genet 44:702-709.
  2. Gallione et al., (2010) Am J Med Genet Part A 152A:333-339.
  3. Howe et al., (1998) Science 280:1086-1088.
  4. Van Hattem et al., (2008) Gut 57:623-627.

Back To Top