Genetics and Genomics Diagnostic Lab
Tests Offered

Tests Offered by the Genetics and Genomics Diagnostic Lab

We offer a broad range of genetic testing options to support accurate diagnosis, personalized treatment, and informed decision-making. Our tests are developed and interpreted by a multidisciplinary team of experts and are backed by advanced technology and nationally recognized clinical expertise. Below is an overview of the specialized tests we offer.

Cardiovascular Genetic Testing

We offer genetic testing for heritable cardiovascular conditions, including connective tissue disorders, aortopathy, cardiomyopathy, cardiac arrhythmias, congenital heart disease, and neuromuscular disorders. We also test for genetic syndromes such as Barth syndrome, Holt-Oram syndrome, Marfan syndrome, heterotaxy syndrome, Noonan syndrome, and long QT syndrome.

Custom Gene Sequencing

Our CAP- and CLIA-certified diagnostic lab offers Sanger sequencing for many clinically relevant genes associated with rare conditions, when available and not restricted by patent protection. Customized testing is especially valuable for patients with rare diseases where standard clinical testing is limited or unavailable.

Confirming a suspected diagnosis through custom testing can provide clarity, guide long-term management, and help avoid unnecessary diagnostic procedures or monitoring.

Enhanced Gene Sequencing Panels

We have upgraded several of our gene panels using improved exome sequencing methodology and enhanced data analysis pipelines.

Immunology Exome Panel: Targets 442 genes known to be associated with immune system disorders and related heritable conditions.
Platelet Disorders Gene Sequencing Panel: Uses updated sequencing approaches for more accurate variant detection and interpretation.

Expanded Erythrocytosis Gene Sequencing Panel

This panel uses whole exome sequencing technology to analyze 27 genes associated with erythrocytosis, related polycythemia conditions, or the oxygen-sensing pathway involved in erythrocytosis pathogenesis. Whole Exome Sequencing (WES) is available as a reflex option for cases with negative or uncertain findings.

Fanconi Anemia Testing

Cincinnati Children’s offers:

Chromosome breakage studies (peripheral blood, bone marrow, skin biopsy)
Molecular analysis

Chromosome breakage study and molecular analysis can be done either sequentially or concurrently.

For information about specimen requirements and turn-around time, see our Fanconi anemia test information sheet.

Hematologic Disorders

We provide genetic testing for a wide range of hematologic conditions. Drawing on clinical expertise from nationally recognized specialists in hematology and nephrology, the laboratory offers comprehensive testing and expert interpretation of results. All testing is conducted in our CAP- and CLIA-certified facility.

Prenatal ExomeSeq Testing

We offer rapid clinical exome sequencing for pregnancies where structural anomalies are identified and a genetic cause is suspected. Preliminary results for up to 15 provider-defined genes (without Sanger confirmation) are typically available within 15 days. A final report, including full exome analysis and Sanger confirmation, is provided within 30 days.

Prenatal Genetic Testing

We offer prenatal diagnostic testing for selected genetic disorders. All cases must be reviewed with our genetic counselor before samples are submitted. In most situations, confirmation of parental carrier status is required before prenatal testing can be performed.

Whole Exome Sequencing (ExomeSeq)

ExomeSeq is a comprehensive whole exome sequencing test for patients with complex symptoms where targeted genetic testing is inconclusive or not cost-effective. Using next-generation sequencing and advanced bioinformatics, our team delivers clinically actionable results tailored to each patient’s medical background. Reports are interpreted and personalized by our expert genetic counselors and molecular geneticists.

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For a complete list of available tests, specimen requirements, turnaround times, and ordering instructions, visit our external test directory.

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Genetics and Genomics Diagnostic LabTests Offered