Featured GeneDx blog posts

GeneDx research presented at ASHG 2026 used GeneDx Infinity™ to investigate microcephaly genetics at scale. The analysis identified two candidate genes for further study, highlighting how genomic data can advance rare disease discovery.

When Emily’s daughter, Ivy, began having seizures at just a few months old, everyday newborn routines quickly gave way to hospital stays, unanswered questions, and medications that were not controlling her seizures. Through the Gene-STEPS research study at Boston Children’s Hospital, GeneDx whole genome sequencing identified a variant in the GRIA2 gene that Ivy’s care team considered the explanation for her condition. The result connected the family with specialists, a patient advocacy community, and research that helped inform a more personalized medication choice. Emily reports that Ivy has been seizure-free since September 2025 while continuing to receive care for her developmental and other health needs.

Prenatal genetic testing results may help you and your healthcare team plan for pregnancy care, delivery, and your baby’s needs after birth. Although testing cannot answer every question, it may give your family more time to prepare.