Recommended by leading medical societies
It doesn’t have to be this way for your patients. Exome sequencing offers a comprehensive assessment that can reduce the time to diagnosis.2
A 6-month-old female presenting with developmental delay and seizures. Claire initially began experiencing frequent seizures at the age of 5 months and her parents also noticed a delay in her development overtime. She was referred to a pediatric neurologist.
Oliver didn’t meet normal toddler milestones, including speaking and walking. He was identified to have autism spectrum disorder and expressive language delay.
Narrower tests leave patients behind:
Of parents of children with autism spectrum disorder whose child has not been tested, 50-70% said they would want testing.10,11 For patients with complex or rare diseases, a precise diagnosis can mean more than changes in medical management.12 Identifying a unifying genetic cause of your patient’s symptoms can open the door to clinical trial eligibility, connections to advocacy and community groups, and more informative prognostic information.
GeneDx’s exome sequencing is among the best in the industry. We offer greater diagnostic accuracy by leveraging our curated dataset of over 665,000 clinical exomes, which enables us to deliver more definitive diagnoses and clinically actionable reports. That can help inform diagnoses, direct treatments, and deliver hope.
*Fictionalized case study for illustrative purposes only
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