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JPS Tier 1

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:
Capillary Sequencing|Exon Array CGH

ORDERING

Test Code:
536
Turnaround Time:
6-7 weeks
Preferred Specimen:
2-5 mL Blood - Lavender Top Tube

BILLING

CPT Codes:
81405x1, 88271x21, 88291x1, 84311x1
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. Howe et al., (1998) Science 280:1086-1088.
  2. Van Hattem et al., (2008) Gut 57:623-627.
  3. Aretz et al., (2007) J Med Genet 44:702-709.
  4. Gallione et al., (2010) Am J Med Genet Part A 152A:333-339.

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