Molecular Diagnostics

This information is useful for children, adults, and older adults
Test tubes hold samples of DNA that will be sent for molecular diagnostic testing.

Credit: Robert A. Lisak

Why Yale Medicine?
  • Next-generation DNA and RNA sequencing tests provide even more health insights.
  • Our clinicians work with a wide array of molecular diagnostic tests.
  • Molecular diagnostics can, in some cases, detect both inherited and mutated genes.

You have likely heard about mail-order genetic DNA testing kits. By providing a saliva sample you can receive a DNA analysis of the particular code in your cells that makes you unique. This consumer-facing diagnostic test, referred to, by one startup, as a genetic "service" that adheres to FDA standards, has taken the world by storm in recent years. But the laboratory physicians at Yale Medicine, including John Howe, PhD, an associate professor of laboratory medicine and director of the molecular diagnostics laboratory at Yale School of Medicine, have been working in the field for decades. The rapid advancements in this area that are helping clinicians and pathologists to refine the diagnosis and treatment of disease. 

Clinical Trials

New treatments for many conditions are tested in clinical trials, which ultimately bring lifesaving new drugs and devices to the patients who need them most. By participating in a clinical trial, you may get access to the most advanced treatments for your condition, and help determine their benefits for future patients.