Genetic Testing for Rare Disease Diagnosis

How do I get genetic testing?

Genetic testing is typically ordered by a healthcare provider based on a patient’s symptoms and medical history. Providers can explore available tests and ordering options through GeneDx, while patients and families can learn how to get started and what to expect during the process.

What diseases can be detected through genetic testing?

Genetic testing can help identify genetic causes of many rare and inherited conditions, including neurodevelopmental disorders, epilepsy, movement disorders, metabolic conditions, cardiac conditions and other complex or unexplained symptoms. GeneDx specializes in exome and genome sequencing, which can analyze many genes at once to help clinicians find answers for patients with suspected genetic conditions.

What does GeneDx test for?

GeneDx provides genetic testing and genomic sequencing to help diagnose rare and complex conditions. Our testing supports patients with developmental delay, intellectual disability, epilepsy, autism spectrum disorder, congenital anomalies, and other inherited conditions across pediatric and adult populations.

Who should consider genetic testing for rare disease?

Genetic testing may be appropriate for individuals with unexplained developmental delays, intellectual disability, epilepsy, congenital anomalies, or other suspected genetic conditions. Healthcare providers can determine when testing is appropriate based on clinical presentation.

What are the benefits of exome and genome sequencing?

Whole exome and genome sequencing analyze thousands of genes at once, increasing the likelihood of identifying the underlying cause of a condition. These tests can help deliver faster, more accurate diagnoses and inform medical management and care decisions.

How can clinicians order genetic testing?

Clinicians can order genetic testing through GeneDx by selecting the appropriate test and submitting a requisition form. Our team provides support throughout the ordering process, including test selection, specimen requirements, and result interpretation.