Genome & exome testing
- What is Whole Exome Sequencing?
- What is Whole Genome Sequencing?
- Does exome sequencing detect copy number variants (i.e. deletions, duplications)?
- Are there genes that are not well covered by exome or genome testing?
- What are the statistics for coverage/quality for GeneDx exome tests?
- Will analysis via exome or genome sequencing identify variants in disease-associated genes that are not associated with the patient’s reported phenotype?
- What is the cost of GeneDx exome or genome testing?
- What does GeneDx need to perform exome or genome testing?
- Whose specimens should be sent for GeneDx exome or genome sequencing, and what testing is performed?
- Can I send a different relative if a parent is unavailable for exome or genome testing?
- Is sequencing via a trio better than a patient alone?
- What will the test report include for GeneDx exome or genome testing?
- How does GeneDx identify variants associated with the patient’s phenotype when they get a genomic test?