Admin
iDea
  • Results
    • Genetic and Infectious
    • Allergies and Food Intolerance
  • Tests
    • By Test
    • By Disorder
    • By Medical Specialty
    • By Gene
    • Genetic Disorders
    • Chromosomal Disorders
    • Cancer Diagnosis
    • Genetic Predispositions
    • Infectious Diagnostics
    • Biological Affinity And Identification
  • Contacts
    • Sofia
    • Plovdiv
    • Varna
    • Skopje
    • Show me all
    • Contact Us Form
  • About us
    • About Us
    • Our Team
  • Documentation
    • Informed Consent
    • Informed Consent NGS
    • Order DNA Analysis
    • Aneuploidy
    • Aneuploidy (Full Panel)
    • Taking-Over Certificate
  1. Home
  2. Tests
  3. Cowden Syndrome type 1

Categories

  • Tests
  • Medical Specialties
  • Disorders
  • Genes

Test Cowden Syndrome type 1

  • Cowden Syndrome type 1
  • Info

Description

Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Furthermore, both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. For this reason Marsh et al. (1999) suggested that the spectrum of disorders be referred to as PTEN hamartoma tumor syndrome (PHTS). Approximately 80% of CS patients have PTEN mutations.
Genes:
PTEN
Disorders:
Tumors
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members

Methods

Sanger sequencing - 900lv.

Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
Ops!
No files are available!
Read More
  • Sofia, "Ami Bue" str. №84, 2nd floor
  • tel. 0882/724 204
  • dnatest@genicalab.com
  • genetest@genicalab.com
  • Home
  • About us
  • Contacts