JPS Del/Dup Analysis

Forms and Documents

Test Details

BMPR1A, SMAD4
  • 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
  • Exon Array CGH

Ordering

538
3-4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)

Billing

81405x1, 81479x1
No
Yes
  • 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.