Rare Disease Education for Clinicians

Exome Testing for Diagnosis

Genetic Testing in Pediatric Neurology

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.

Variant classification and reanalysis in exome testing

Summarizes genetic variant classification and analysis methods for clinicians.

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.

Using RNA sequencing and other technologies to aid in variant interpretation

The majority of pathogenic variants are identified by DNA analysis. However, for a discrete number of patients whose results are uninformative, it may be possible to get a more definitive answer about the consequences of a variant using additional methods like RNA sequencing, protein analysis and predictive or functional studies.