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Sarah had no specific cardiac symptoms at birth but was diagnosed with a CHD after concerns were first identified via a routine visit to her pediatrician. After a year-long wait for a genetics evaluation, she received a genetic diagnosis.

For Violet, less comprehensive genetic testing was ordered prenatally and in the NICU. Had genome sequencing been ordered first, Violet would likely have received a genetic diagnosis prior to her discharge home.

Sophia’s structural heart defect was identified prenatally. After an admission to the NICU upon birth, ultraRapid genome sequencing was ordered.

When standard testing isn’t enough: finding answers through exome sequencing

Turning uncertainty into informed clinical decision-making

Clarifying the cause of cerebral palsy with genetic testing