Tag:

whole exome sequencing

Patient Story

Hope for a rare genetic disease

Addison Weith’s genes put her at risk for health troubles. Her family’s vigilance during the pandemic has kept her healthy for the longest stretch ever.

Patient Story

‘A completely different baby’

Born with a rare and life-threatening immune system disorder, baby Emmett gets a new start with a bone marrow transplant.

Patient Story

Haylie’s mystery, solved

The Schneider family faced profound questions about their daughter’s developmental differences. Advances in genetic testing finally revealed answers.