Exome Testing for Diagnosis
Practice identifying patients who may benefit from exome testing and communicating with patients, families, and genetic experts about testing.
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About 70% of rare diseases are genetic. Rare diseases are those conditions that affect fewer than 200,000 people in the U.S. Though each is rare, cumulatively they are significant, as 1 in 10 individuals are estimated to be affected.
Frequently, children and adults affected with a rare disease struggle to receive a diagnosis. The diagnostic odyssey in these cases can be frustrating for families and clinicians alike.
Treatments, prognostic information and recurrence risk in families depend on having a diagnosis. Diagnostic rates are improving with advances in genomic testing.
Learn more about benefits and limitations of these tests in our free, 30-minute CME/CNE courses and clinical education resources below.
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Genetic Testing in Pediatric Neurology
Practice identifying when further value might be added by a molecular diagnosis and choosing the best genetic tests for the clinical context.
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Talking Points about Exome Testing
Outlines the important things to discuss with patients and families before referring to genetics.
Patient Management after Genomic Testing
Summarizes patient care and management steps for patients with positive, negative, uncertain, and unexpected results from genomic testing.
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Variant Classification and Reanalysis in Exome Testing
Summarizes genetic variant classification and analysis methods for clinicians.
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Comparing Genetic Tests
Provides a quick reference for the detection capabilities for common types of genetic testing, such as gene sequencing and deletion/duplication analysis.
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Using RNA Sequencing and Other Technologies to Aid in Variant Interpretation
Explores techniques, such as RNA sequencing, used to help understand impact of a variant identified during DNA analysis.
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