Clinical Laboratories
Genetic and Genomic Diagnostic Lab

Supporting Patient Care through Genetic Testing

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

Our Laboratory Sections

Cytogenetics

The Cytogenetics Laboratory specializes in clinical tests aimed to detect chromosomal abnormalities that may be associated with genetic conditions or cancer. By testing for structural and numerical chromosomal abnormalities, we provide diagnostic insights that help guide clinical decision-making for a range of medical indications, such as evaluating for a constitutional chromosomal abnormality in prenatal or postnatal patients and evaluating for acquired cytogenetic abnormalities in patients with hematologic malignancies. Our Cytogenetics Laboratory has been providing high-quality clinical testing service for over 40 years, and we continue to refine and advance our testing methodologies, ensuring accurate and timely results.

Our board-certified cytogeneticists and genetic counselors assist clinicians in selecting appropriate tests, interpreting complex results, and coordinating follow-up studies for at-risk family members. Our 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 detecting genomic methylation pattern variations that are associated with 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.

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 testing for at-risk family members.

Accreditation and Quality Standards

The Genetic and Genomic Diagnostic Laboratory is certified by CLIA and accredited by CAP, 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.

Tests and Services

Clinical LaboratoriesGenetic and Genomic Diagnostic Lab