Featured GeneDx blog posts

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Savannah’s story: How exome testing diagnosed CTNNB1 Syndrome
Rare Disease Diagnostics

Savannah’s story: How exome testing diagnosed CTNNB1 Syndrome

Patient Stories
ctnnb1-syndrome-genetic-diagnosis
Bodhi’s story: How exome testing diagnosed Cabezas Syndrome
Rare Disease Diagnostics

Bodhi’s story: How exome testing diagnosed Cabezas Syndrome

Patient Stories
cabezas-syndrome-genetic-diagnosis
Simon’s story: How genetic testing diagnosed a rare immune disorder
Rare Disease Diagnostics

Simon’s story: How genetic testing diagnosed a rare immune disorder

Patient Stories
nemo-deficiency-genetic-diagnosis
The emotional benefits of receiving a genetic diagnosis
Rare Disease Diagnostics

The emotional benefits of receiving a genetic diagnosis

Education
emotional-benefits-genetic-diagnosis
How genetic testing can help identify the cause of epilepsy in children
Epilepsy

How genetic testing can help identify the cause of epilepsy in children

Education
genetic-diagnosis-child-epilepsy
SeqFirst-Neo Study: Rapid genome sequencing in the NICU improves diagnosis rates
NICU

SeqFirst-Neo Study: Rapid genome sequencing in the NICU improves diagnosis rates

Research & Innovation
rapid-genome-sequencing-nicu-seqfirst-neo-study
Does ancestry affect genetic testing results? Insights from a large exome study
Exome

Does ancestry affect genetic testing results? Insights from a large exome study

Research & Innovation
genetic-testing-accuracy-across-ancestry-study
Why ordering exome sequencing first matters for epilepsy diagnosis
Epilepsy

Why ordering exome sequencing first matters for epilepsy diagnosis

Education
exome-sequencing-first-epilepsy-testing-strategy
Carlotta’s story: How exome sequencing helped end a search for answers
Rare Disease Diagnostics

Carlotta’s story: How exome sequencing helped end a search for answers

Patient Stories
early-genetic-diagnosis-rare-disease-child