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Cluster WGS

Genetic testing for a healthy newborn

September 5 2026

Can we look earlier? Your baby appears healthy. The pregnancy has been uneventful, or perhaps accompanied only by minor concerns. Routine newborn screening — the familiar heel-prick test — has been performed, or will be performed, and there is no specific reason to suspect a genetic disorder. But some genetic diseases are present before their

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Deep intronic variants: can they explain an unresolved genetic condition?

December 29 2021

When Whole Exome Sequencing does not provide an answer From developmental delay or intellectual disability, with or without autistic features, to neuromuscular disorders, suspected metabolic conditions, isolated or syndromic epilepsy and complex multisystem phenotypes, many patients remain without a molecular diagnosis after whole exome sequencing (WES) or trio WES. Despite the high diagnostic potential of

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