Expert review of molecular diagnostics
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Expert Rev. Mol. Diagn. · Nov 2011
ReviewAdopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing.
Orphan diseases are individually uncommon but collectively contribute significantly to pediatric morbidity, mortality and healthcare costs. Current molecular testing for rare genetic disorders is often a lengthy and costly endeavor, and in many cases a molecular diagnosis is never achieved despite extensive testing. ⋯ Recent advances in next-generation sequencing and bioinformatic technologies have the potential to change the standard of care for the diagnosis of rare genetic disorders. These advances will be reviewed in the setting of a recently developed test for 592 autosomal recessive and X-linked diseases.