Clinical Laboratories
Genetics and Genomics Diagnostic Lab

Proton Research shoot, At the Proton Research Facility, scientists test the effects of proton radiation on models of human disease. They work alongside physicists, engineers, and radiation biologists to optimize radiation treatment. Their goal is to understand at the molecular level how radiation therapy works in the clinic and how to optimize the process to take full advantage of the therapy while reducing side effects, Research assistant Alexis Redmond pictured in the lab.

Supporting Patient Care through Genetic Testing

The Genetics and Genomics Laboratory at Cincinnati Children's utilizes cutting-edge technologies to provide comprehensive genetic and genomic testing for local, national, and international patients. Our laboratory integrates expertise in cytogenetics and molecular genetics, offering specialized testing to support diagnosis, prognosis, and treatment planning.

Our Laboratories

The Cytogenetics Lab specializes in the study of chromosomal abnormalities that play a critical role in genetic disorders. By analyzing structural and numerical chromosomal variations, we provide diagnostic insights that help guide clinical decision-making for a range of conditions, including prenatal genetic concerns, hematologic malignancies, and constitutional genetic disorders. With over 40 years of experience, our laboratory continues to refine and advance its testing methodologies, ensuring accurate and timely results.

Our board-certified cytogeneticists work closely with clinical experts to provide comprehensive interpretations that integrate laboratory findings with patient history and clinical presentation. We offer routine cytogenetic testing as well as specialized services, including Optical Genome Mapping (OGM) for detecting complex structural variants and Episignature Analysis for epigenetic disorders. Through the combination of advanced technology and expert evaluation, our laboratory delivers high-quality cytogenetic diagnostics that support healthcare providers in diagnosing and managing genetic conditions.

The Molecular Genetics Lab applies cutting-edge DNA and RNA-based testing to identify genetic variants associated with inherited diseases and complex disorders. As one of the largest academic molecular genetics laboratories in the country, we provide comprehensive sequencing and molecular diagnostic services that enable precision medicine approaches for a wide range of conditions. Our laboratory specializes in targeted gene sequencing, whole exome sequencing, and customized genetic panels designed to provide actionable clinical insights.

Our team of board-certified molecular geneticists and genetic counselors assists clinicians in selecting appropriate tests, interpreting complex results, and coordinating follow-up studies for at-risk family members. We continually enhance our methodologies to ensure that our testing meets the highest standards of accuracy and clinical relevance. Our services include innovative solutions such as Prenatal ExomeSeq for rapid genetic analysis of fetal anomalies and advanced sequencing technologies for diagnosing rare and complex conditions. By combining expert analysis with cutting-edge molecular techniques, we provide clinicians with the critical information needed for personalized patient care.

Why Choose Us?

  • Comprehensive Expertise: Our team includes board-certified geneticists, molecular and cytogenetic experts, and genetic counselors.
  • Advanced Testing Capabilities: We offer a broad test menu covering rare and common genetic conditions.
  • Integrated Clinical Support: We partner with Cincinnati Children's clinical experts to provide thorough test interpretations and patient management recommendations.
  • Family Testing Coordination: We facilitate at-risk family member studies and genetic counseling referrals.

Accreditation and Quality Standards

The Genetics and Genomics Laboratory is CLIA-certified and CAP-accredited, ensuring the highest standards of accuracy and reliability in genetic testing. We adhere to rigorous quality control measures and external proficiency testing to maintain excellence in diagnostics. See all of our certificates.