Genetic and Genomic Diagnostic Lab

Specialty Testing

Specialty Testing

The Genetic and Genomic Diagnostic Laboratory at Cincinnati Children’s provides a range of specialized testing services that are not typically available through most commercial clinical laboratories. These advanced tests require a high level of expertise for both test performance and result interpretation.

Tests Interpreted by Physician Collaborators

Our laboratory offers many tests developed in collaboration with board-certified physicians who specialize in specific disease areas. These tests evaluate genes that have been carefully selected for their clinical relevance. Results from these tests are reviewed and interpreted by both our physician collaborator and our board-certified genetic laboratory director, ensuring the highest standards of clinical accuracy and insight. Tests interpreted by our Physician Collaborators include: 

• Alpha (HBA1/2) and Beta (HBB) Globin Gene Locus Analysi
• Autoimmune Lymphoproliferative Syndrome (ALPS) Gene Sequencing Panel
• Circadian and Complex Sleep Disorders Panel
• Cleft and Craniofacial Gene Panel
• Erythrocytosis Gene Sequencing Panel
• Hemolytic Anemia Gene Sequencing Panel
• Immunology Exome
• Liver Disease Gene Sequencing Panel
• MetaboSeq FAO Gene Sequencing Panel for Fatty Acid Oxidation 
• Neurovascular Disease and Stroke Gene Sequencing Panel
• OtoSeq Gene Sequencing Panel for Hearing Loss
• Pancreas Gene Sequencing Panel
• Platelet Disorders Gene Sequencing Panel