Genetics and Genomics Diagnostic Laboratory
Molecular Genetics

Molecular Tests for Genetic Disorders and Risk Factors

The Molecular Genetics Laboratory at Cincinnati Children’s is one of the largest and most specialized academic molecular genetics labs in the nation. We combine state-of-the-art genetic testing with comprehensive interpretation of test results by nationally recognized, board certified pediatric specialists, geneticists and genetic counselors to provide clinically relevant molecular tests for a variety of genetic disorders and risk factors.

We are continually expanding our test offerings. Visit our website to stay updated on our test offerings.

Our Specialty Programs                

Go to our Custom Gene Sequencing pages. Custom Gene Sequencing

Targeted Deletion and Duplication Analysis

Go to our Hematologic Disorders testing page.Hematologic


Go to the Whole Exome Sequencing website.Whole Exome

Go to the Diagnostic Center for Heritable Immunodeficiencies web page.Diagnostic Center for Heritable Immunodeficiencies 

Cardiovascular Diseases Genetic Testing Program. Cardiovascular Diseases Genetic Testing Program (Formerly the Heart Institute Diagnostic Lab)

Go to the Genetic Testing for Hearing Loss web page.Genetic Testing
for Hearing Loss

Go to the Hereditary Liver Diseases Genetic Testing Program web page.Hereditary Liver Diseases Genetic Testing Program

Hereditary Pancreatic Diseases Genetic Testing Program

Go to the Fatty Acid Oxidation Disorders Diagnostic Testing Center web page.Inborn Errors of Metabolism Diagnostic Testing Program

Go to the Genetic Pharmacology Service web page. Genetic Pharmacology Service  


Why Choose Us?

Our lab will give you access to unparalleled clinical expertise. We provide guidance in:

  • Test selection
  • Clinical interpretation
  • Recommendations for genetic counseling
  • Coordination of studies for at-risk family members
Contact us.

Clinical Laboratory Index

View all tests offered by Cincinnati Children’s.

Diagnostic Test Sheets and Requisitions

View list of tests.

Introducing: Prenatal ExomeSeq Testing

The Genetics and Genomics Diagnostic Laboratory at Cincinnati Children's now offers rapid clinical exome sequencing services for pregnancies where the fetuses have structural anomalies, and a genetic cause is suspected. The Prenatal ExomeSeq provides preliminary results (verbal or written) within 15 days for a provider-defined list of genes (up to 15 genes without Sanger confirmations). Final report delivered with full exome sequencing analysis and Sanger confirmation in 30 days.
Prenatal ExomeSeq Test Information  |  Test Requisition   |  Prenatal Exome Consent Form

Enhanced Gene Sequencing Panels

The Immunology Exome Panel and Platelet Disorders Gene Sequencing Panel now utilize an updated exome sequencing (ES) methodology and an improved data analysis pipeline.

The Immunology Exome Panel analyzes a predefined list of 442 genes that are associated with immune system defects or related heritable disorders.
Immunology Exome  |  Test Requisition

Our Platelet Disorders Gene Sequencing Panel provides comprehensive analysis of 73 clinically significant genes to identify inherited forms of platelet dysfunction.
Platelet Disorders Gene Sequencing Panel  |  Test Requisition

New Cell Collection Kits

Saliva collection kits for DNA collection in patients with low white counts or for use when venipuncture is not practical are now available. Call 513-636-4474 for a free saliva cell collection kit.