GenePath Diagnostics
  • About Us
    • Mission
    • The GenePath Story
    • Our Team
    • Board of Directors
    • Advisors
    • Core Values
    • Testimonials
  • Diagnostic Services
    • Paediatrics and Paediatric Endocrinology
    • Haematology/ Haemato-oncology
    • Oncology (Solid Tumors)
    • Nephrology
    • Neurology and Paediatric Neurology
    • Infectious Diseases
    • Reproductive and Women’s Health
  • Science
    • Molecular Diagnostics
    • Platform Technologies
    • Publications
    • Conferences
  • Case Studies
    • Genetic Disorders
    • Oncology
    • Infectious Diseases
  • News
  • Contact us
    • Get in Touch
    • Careers
  • About Us
    • Mission
    • The GenePath Story
    • Our Team
    • Board of Directors
    • Advisors
    • Core Values
    • Testimonials
  • Diagnostic Services
    • Paediatrics and Paediatric Endocrinology
    • Haematology/ Haemato-oncology
    • Oncology (Solid Tumors)
    • Nephrology
    • Neurology and Paediatric Neurology
    • Infectious Diseases
    • Reproductive and Women’s Health
  • Science
    • Molecular Diagnostics
    • Platform Technologies
    • Publications
    • Conferences
  • Case Studies
    • Genetic Disorders
    • Oncology
    • Infectious Diseases
  • News
  • Contact us
    • Get in Touch
    • Careers

Genetic Disorders

Rapid and specific test that detects >99% cases of Prader Willi Syndrome

Genetic diagnosis helps couple make informed reproductive choices

A germline mutation in the VHL gene is responsible for Von-Hippel-Lindau disease

The right molecular assay supports clinical suspicion in a case of Silver-Russell Syndrome

Highly sensitive assay detects a somatic mutation

Molecular assay confirms a mutation in the gene that causes Congenital Adrenal Hyperplasia

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