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Holiday schedule

Our Patient Service Centers will be closed on Monday, May 27, 2024 for the Memorial Day holiday. Have a healthy, happy holiday.


Expansive and deep testing capabilities

Quest Diagnostics is at the forefront of genetics and rare disease diagnostics, offering an integrated approach to support orphan drug development and commercialization. By consolidating our market-leading capabilities, we deliver unmatched expertise and an extensive test menu to pharmaceutical partners.

Our genetic testing services span major clinical areas, including but not limited to:

Technical expertise across major platforms and technologies

Quest Diagnostics harnesses a variety of cutting-edge technologies and platforms to provide precise and actionable diagnostic insights.


  • Next-generation sequencing (NGS): Our NGS capabilities allow for comprehensive genetic analysis, from targeted gene panels to deep intronic variants, uniform sequencing, difficult-to-sequence genes, and mitochondrial genome to whole-exome and whole-genome sequencing, enabling detailed variant detection across a wide array of conditions
  • Molecular diagnostics: Utilizing PCR, microarray, and other molecular techniques for rapid and sensitive detection of genetic variations, supporting early diagnosis and personalized treatment strategies
  • Digital pathology and AI: Leveraging digital pathology and artificial intelligence to enhance diagnostic accuracy, particularly in oncology, by providing detailed analysis of tissue samples and identifying subtle markers indicative of specific cancer types

Advancing through multi-omics

Understanding the complexity of rare diseases extends beyond traditional genetic testing. Our capabilities further incorporate:

  • Epigenetics: Insights into gene regulation mechanisms through the analysis of DNA methylation patterns and histone modifications

  • Transcriptomics: Identification of gene expression changes and splice variants for disease mechanism understanding

  • Metabolomics (Including biochemical testing): Analyzing metabolites to understand metabolic disorders and enzyme deficiencies, providing a comprehensive view of biochemical pathways affected by genetic variations

  • Future capabilities: Actively exploring opportunities to integrate additional omics layers, such as proteomics and microbiomics, to enhance our understanding and treatment of rare diseases

Supporting orphan drug development

Quest Diagnostics provides a comprehensive suite of services designed to support every phase of orphan drug development, from discovery through post-market surveillance. Leveraging our expertise and capabilities, we offer innovative solutions tailored to the unique needs of orphan drug development.

Why partner with Quest Diagnostics

Quest Diagnostics stands apart with:

White paper:

Rare disease diagnostics: Advancing orphan drug development through precision testing

Explore the challenges facing orphan drug development, from understanding disease progression to identifying and validating biomarkers, and the importance of early diagnosis.

Download our white paper

Let's discuss your project

Connect with us to explore how Quest Diagnostics can enhance your orphan drug development strategies with our advanced genetics and rare disease solutions.

Let's talk