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Answers for Bodhi: After two years of searching, an exome test identified his rare condition

One heroic family wouldn’t take no for an answer. Going full mama bear—and grandmama bear—finally led to answers.

Like many children with a rare condition, Simon’s health problems were initially thought to be flukes

Until genetic testing saved his life

Rare Disease Month spotlight: The top five psychological benefits of a genetic diagnosis

Every day we hear from families about what a difference a genetic diagnosis made in their lives. Here’s what they have to say.

What can a genetic diagnosis do for a child with epilepsy?

It may be more than you think. Understanding the fundamental cause of epilepsy can identify new treatments and ultimately reduce seizures.

Are critically ill babies put on an unnecessary diagnostic odyssey because of conventional medical protocols? A new study says yes.

University of Washington shared the latest research from the SeqFirst-Neo study at the 2024 annual meeting of the American Society of Human Genetics.

Racial disparities in genetic testing: The problem may not be what you think

The latest research, presented today at ASHG, shows that GeneDx can confidently provide genomic answers for everyone, no matter their ancestry.

Just how much of a difference does it make to order exome sequencing first?

For patients with seizures, there’s a real difference between ordering exome sequencing first and starting with a multi-gene panel or chromosomal microarray (CMA).

A genetic condition may be hiding behind epilepsy

A genetic condition may be hiding behind epilepsy

This Epilepsy Awareness Month, we’re shining light on the genetic causes of seizures.

A diagnosis even before symptoms begin: First results from the groundbreaking GUARDIAN study

Findings from the first 4,000 newborns screened using GeneDx genome sequencing, were published today in the Journal of the American Medical Association (JAMA). 

One mom’s seven-year journey to find answers for her son’s illness. 

Ben’s illness started with seizures when he was just six-months old.

His mother, Ashley, never stopped searching for answers—and finally found them with a genome test.