Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

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 zebras@genedx.com.

JPS Del/Dup Analysis

FORMS AND DOCUMENTS

TEST DETAILS

Genes:
BMPR1A, SMAD4
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:
Exon Array CGH

ORDERING

Test Code:
538
Turnaround Time:
3-4 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x1, 81479x1
New York Approved:
No
ABN Required:
Yes
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)
* 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.

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